Hemochromatosis ndi cholowa chamilandu chomwe chimalumikizidwa ndi kuyamwa kwazitsulo m'matumbo am'mimba komanso kudziunjikira kwazinthu zingapo zamkati.

Chiwindi chimavutika kuposa ena. Kuzindikira koyambirira kwa hemochromatosis, kuzindikira kwake ndi chithandizo chake sichingalole kukula kwa zotsatira.

Hemochromatosis - mkhalidwe wamakono wavuto

N.B. VOLOSHINА1, M.F. OSIPENKO1, N.V. LITVINOVA1, A.N.VOLOSHIN2
1 Novosibirsk State Medical University FGBOU mu NSMU ya Ministry of Health of Russia, Russia,
Chipatala cha 2Novosibirsk City Clinical 2, Russia

Matenda oonjezera pazitsulo amatha kuphatikizidwa ndi magawo omwe ali ndi zinthu zambiri zokhudzana ndi cholowa. Herederal hemochromatosis ndiye ovuta kwambiri pamtundu wamtundu. Popanda achire kulowetsedwa matendawa kungayambitse kukula kwamavuto oopsa monga cirrhosis, hepatocellular carcinoma. Nkhaniyi ikuwonetsa za pathogenesis, kuzindikira ndi kuchiza kwa chibadwa cha hemochromatosis. Zoyenera za chipatala zimaperekedwa.
Mawu osakira: cholowa haemochromatosis, mankhwala, phlebotomy.

Hemochromatosis ndi matenda omwe amalumikizidwa ndi kuchuluka kwazitsulo zambiri m'thupi, zomwe zimayambitsa zovuta zamagulu ena. Nthawi zambiri, kuyamwa kwachitsulo kumakhala kolamulidwa mwamphamvu, chifukwa chomwe thupi silingathe kubisa chitsulo chowonjezera. Chitsulo chowonjezera chimadziunjikira mumaselo ngati hemosiderin. Izi zimabweretsa kufa kwa maselo komanso kulowetsa ma cell ena ndi minyewa ya fibrous, zomwe zimayambitsa kusokonekera kwa kapangidwe kake ndi ntchito ya ziwalo. Ndi hemochromatosis, kuwonongeka kwa chiwindi, kapamba, mtima, chithokomiro, mafupa, khungu, gonads, ndi pituitary gland ndizotheka.
Kuchulukitsa kwachitsulo, komwe kumayambitsa hemochromatosis, kumatha kuchitika m'njira zitatu: kuchuluka kwa chitsulo chamkamwa, kuchulukitsidwa kwachitsulo panthawi yanthawi yachakudya yachitsulo, komanso kupanga kwambiri kapena kupanga ma cell ofiira.
Mu cholowa cha hemochromatosis, chitsulo chowonjezera nthawi zambiri chimayikidwa m'maselo a parenchymal, pomwe mu hemochromatosis wosinthika amaikidwa m'maselo a reticuloendothelial 1-3.
Hereditary hemochromatosis imaphatikizapo gulu la zovuta zamtundu zomwe zimadziwika ndi kuchuluka kwazitsulo. Makina owoneka bwino mumitundu yambiri ya chibadwa cha hemochromatosis ndi hepcidin, amene amathandiza kwambiri pazitsulo homeostasis 4-6. Hepsidin imapangidwa makamaka mu hepatocytes ndikuwongolera kuyika kwa chitsulo mu plasma pomangiriza kwa ferroportin (wotchedwanso SLC40A1), transporter wodziwika wokha wachitsulo kuchokera kuzinthu zopereka zachitsulo. Ferroportin amatumiza chitsulo kuchokera ku duodenum, kuchokera ku macrophages ndi hepatocytes.
Mu plasma, chitsulo chimamangiriza trasferrin, kotero machulukitsidwe achitsulo omwe amakhala ndi transerrin amakhala pafupifupi 35% (pafupifupi mtengo wam'mawa). Hepsidin amaletsa kumasulidwa kwa chitsulo kuchokera ku macrophages (kuchokera m'magazi ofiira am'magazi ndi ferritin), hepatocytes ndi duodenal enterocytes pomanga ferroportin. Ndipo posakhala ferroportin, kutulutsa kwazitsulo kuchokera ku enterocytes, hepatocytes ndi macrophages ndi oletsedwa. Chifukwa chake, hepcidin amachepetsa kuyamwa kwachitsulo m'matumbo, amachepetsa kuchuluka kwa chitsulo chomwe chimatulutsidwa kuchokera ku hepatocytes ndi macrophages, omwe amatsogolera kutsika kwachitsulo mu plasma komanso kuwonjezeka kwa minofu.
Choyambitsa chibadwa cha hemochromatosis ndi kusintha kwamtundu wa HFE. Zovuta za mtundu wa HFE zidafotokozedwa koyamba mu 1996, komwe ndi kusintha komwe kumapangitsa kuti tyrosine isinthidwe ndi cysteine ​​pa amino acid position 282 (C282Y). Kusintha kwa mtundu wa HFE kumayambitsa kuyamwa kwachuma, ngakhale kuli kwachilendo. Puloteni ya HFE imayang'anira kupanga hepcidin. Odwala omwe ali ndi cholowa cha hemochromatosis homozygotes C282Y achokera 80 mpaka 85% 1, 8.
Pali mitundu inanso iwiri yosinthira: imodzi imagwirizanitsidwa ndi kusintha kwa aspartate ndi histidine pamalo a 63 (H63D), ndipo chachiwiri ndi kulowetsa kwa cysteine ​​ndi serine pamalo 65 (S65C). Kusintha uku sikugwirizana ndi vuto la iron overload, pokhapokha C282Y ndi gawo limodzi la C282Y / H63D kapena C282Y / S65C heterozygos. Chifukwa chake, mtundu wokhudzana ndi HFE wa hehemchromatosis wobadwa nawo umatha kutsimikiziridwa ndi njira ya asymptomatic ya matendawa. Chifukwa chake, kupezeka kwa majini kungagwiritsidwe ntchito mwa odwala omwe hemochromatosis sanawonetse kwambiri. Gulu la odwala omwe ali ndi chibadwa chamtsogolo ku hemochromatosis. Ma Heterozygotes ali pachiwopsezo chotenga matenda a shuga poyerekeza ndi kuchuluka kwa anthu, momwe zimapangidwira chitukuko chosadziwika 9-11.
Poyamba anthu amaganiza kuti odwala onse omwe ali ndi vuto la mtundu wa HFE, chipatala cha hemochromatosis chidzakula pakapita nthawi. Komabe, zidapezeka kuti mawu akuti phenotypic amapezeka pokhapokha 70% ya C282Y homozygotes, ndipo ochepera 10% awo amakhala ndi chitsulo chambiri ndikuwonongeka kwa ziwalo zamkati 12, 13.
Gome likuwonetsa kugawidwa kwa ma syndromes achitsulo kutengera zomwe zimachitika.
Kutengera zomwe zimayambitsa matendawa, odwala omwe ali ndi iron overload syndrome amatha kugawidwa m'magulu anayi: odwala omwe ali ndi cholowa cha hemochromatosis, odwala omwe ali ndi hemochromatosis yachiwiri chifukwa cha zifukwa zosiyanasiyana, komanso gulu laling'ono la odwala, lomwe limadziwika kuti ndi "losiyana."
Choyambitsa masekondi a hemochromatosis ndi erythropoietic hemochromatosis. Nthawi zambiri izi zimachitika chifukwa cha nthenda yamagazi yomwe maselo ofiira amakhala ndi nthawi yayifupi. Gulu la matendawa limaphatikizapo kuchepa kwa magazi m'thupi, kuchepa kwa magazi m'thupi, kuchepa kwa magazi m'thupi, kuchepa kwa magazi, kuchepa kwa magazi, kuchepa kwa magazi m'thupi, kuchepa kwa magazi m'thupi, kuchepa kwa magazi m'thupi.
Iron overload syndrome ingachitike mwa odwala omwe amalandila magazi nthawi yayitali komanso kangapo. Monga taonera pagome, matenda ena osowa, monga, porphyria, amathanso kuyambitsa iron overload.
Pomaliza, kudya kwambiri iron kungayambitse hemochromatosis. Zambiri zodziwika bwino m'mbiri: kugwiritsa ntchito mowa womwe umapangidwa ndi zida zachitsulo ndizomwe zimapangitsa kuti pakhale chitsulo chambiri. Komanso, bongo wambiri wamakonzedwe azitsulo ungayambitse matenda ochulukitsa a iron. Kumbukirani kuti ambiri pazakudya zopatsa thanzi zomwe zimakhala ndi mulingo wokwanira, kotero kugwiritsa ntchito kosalamulirika sikovomerezeka.
Zizindikiro za matendawa zimadalira chiwalo chomwe chimakhudzidwa kwambiri, komabe, pafupifupi odwala onse amadandaula chifukwa chofooka komanso kutopa kwakukulu. Palibe zizindikiro zapadera za hemochromatosis. Nthawi zambiri, matendawa amapezeka pamlingo wa matendawa, pomwe machitidwe angapo adakhudzidwa kale. Kuchokera ku zoyamba za matendawo kutsimikizira matendawa nthawi zambiri kumatenga pafupifupi zaka khumi. Mwa azimayi omwe ali ndi hemochromatosis, zizindikiro za matendawa zimadziwonekera pang'onopang'ono kuposa abambo, chifukwa cha kusamba kwa magazi, kutaya kwa "chitsulo cham'mimba" pa nthawi ya pakati komanso antioxidant zotsatira za estrogen, ndipo matendawa samadzionetsa asanakwane nyengo yachilendo.
Pafupifupi 50% ya odwala omwe ali ndi matenda obadwa nawo amakhala ndi matenda osokoneza bongo, chiwopsezo chotere chimawonjezeka kwambiri mu heterozygotes. Cirrhosis ya chiwindi ilipo mu 70% ya odwala omwe ali ndi hemochromatosis. Mu gululi la odwala, zochitika za hepatocellular carcinoma, zomwe ndizomwe zimayambitsa imfa, zimachulukanso.
Kuwonongeka kwa mafupa ndi hemochromatosis kumawonekera mu mawonekedwe a arthralgia (nthawi zambiri mafupa achiwiri ndi achitatu a metacarpophangeal). Zovuta zophatikizana ndi hemochromatosis nthawi zambiri sizichitika, ngakhale kusinthika kophatikizako kumatheka. Mu odwalawa, monga lamulo, makhiristo a calcium pyrophosphate amatha kupezeka mu madzi a synovial. Amadziwika ndi polyarthritis ndi hemochromatosis kuti ngakhale atatha kukonza masitolo achitsulo, amatha kupitabe patsogolo.
Kutsika kwachitsulo mu ulusi wa minofu ya mtima ndi maselo a kayendedwe ka mtima kumatha kuyambitsa chisokonezo cha mtima komanso / kapena kuchepetsedwa kwa mtima, ndikukula kwina kwa kulephera kwa mtima. Nthawi zina, kulipira kwathunthu kumanzere kwamitsempha yamagazi pambuyo pakuwongolera mulingo wazitsulo m'thupi 9-12.
Ndi hemochromatosis, kukula kwa hypogonadism ndipo, motero, kusabala chifukwa cha kusokonekera kwa hypothalamic ndi / kapena kuperewera, zomwe zimayambitsa kuphwanya kutulutsidwa kwa mahomoni gonadotropin, ndizotheka. Pakakhala chitsulo chowonjezera kasanu kapena kuposerapo, khungu limasokonekera, zomwe zimachitika chifukwa cha kuyika kwa chitsulo ndi melanin. Kuchulukitsa kwachuma kwa ma macrophage kumatha kuyambitsa kufooka kwa phagocytosis ndi kuchepa chitetezo chokwanira, zomwe zimabweretsa chiopsezo chowonjezereka cha matenda kuchokera ku Listeria, Yersinia enterocolitica ndi Vibrio vulnificus. Kutulutsa kwa chitsulo mu chithokomiro cha chithokomiro nthawi zambiri kumayambitsa hypothyroidism.
Gawo lachitukuko cha hemochromatosis limadziwika ndi kukhalapo kwa cirrhosis, matenda a shuga komanso khungu lotupa (lotchedwa matenda amkuwa). Odwala omwe amamwa mowa kwambiri ndipo amatha kudwala hepatitis B ndi / kapena C, matenda a chiwindi ndi kapamba omwe amaphatikizana ndi hemochromatosis amapitilira kwambiri 1-3.
Chithunzicho chikuwonetsa njira za matenda omwe akuganiza kuti ndi hemochromatosis. Amadziwika kuti 70% yokha ya C282Y homozygotes adakweza milingo ya ferritin, yomwe ikufanana ndi kuwonjezeka m'masitolo achitsulo, ndi ochepa ochepa mwa omwe ali ndi odwala omwe amawonetsa matendawa. Zachidziwikire, odwala onse omwe ali ndi zizindikiro zomwe zingachitike ndi hemochromatosis amayenera kupimidwanso kuti apewe matendawa. Chidwi chachikulu chiyenera kuperekedwa kwa odwala omwe ali ndi vuto losakhazikika, arthralgia, kupweteka kwa kumtunda kumanja kwamatumbo, kusabala, kuchepa kwa libido, matenda a mtima, matenda a pakhungu, komanso matenda ashuga. Kuphatikiza apo, mu onse omwe ali ndi hepatomegaly, cytolytic syndrome, omwe ali ndi gawo la matenda a cirrhotic, ndikofunikira, kuwonjezera pazomwe zimayambitsa matendawa chifukwa cha matendawa, kukumbukira mwayi wa hemochromatosis. Inde, cholowa cha hemochromatosis sichiyenera kuperekedwa kwa odwala omwe ali ndi achibale oyamba a kinship omwe ali ndi hemochromatosis.

Phunziroli liyenera kuyamba kuyeza kuchuluka kwa seramu transerrin kapena serum ferritin. Tisaiwale kuti kutsimikiza kwa kusamutsidwa kwa milandu ya erythropoietic hemochromatosis sikuthandiza kwenikweni pakutsimikizira vuto la iron overload. Kukula kwa ferritin kumadalira makamaka kupezeka kwa matenda otupa. Ngati mulingo wa ferritin ndiwopamwamba kuposa 200 μg / l mwa akazi kapena 300 μg / l mwa amuna kapena machulukitsidwe a transferin amaposa 40% mwa akazi kapena 50% mwa amuna, kuyesa kwina ndikofunikira kupatula hemochromatosis 1, 2, 10, 11.
Malinga ndi malingaliro a bungwe la American Association for the Study of chiwonetsero cha Matenda a Chiwindi 2011 (AASLD 2011) ngati wodwala ali ndi serum transferin ya 1000 mg / l), ndipo malingana ndi izi, lingaliro limapangidwa pamayendedwe achire komanso kufunikira kwa mtundu wina wa chiwindi (onani tchati )
Odwala omwe ali ndi kuphatikiza kwa heterozygotes C288Y / H63D, komanso C288Y heterozygotes kapena ayi C288Y, kupatula mosamala matenda ena a chiwindi kapena magazi ndikofunikira (ngati pakufunika kutero, kupweteka kwa chiwindi ndikofunikira) kenako lingaliro lingachitike pakuthana ndi magazi.
Palibe umboni wodalirika kuti Zakudya zina zimakhudza kuyamba kwa hemochromatosis. Komabe, olemba ena amakhulupirira kuti odwala omwe ali ndi cholowa cha hemochromatosis amawonetsedwa kudya popanda kusiyanitsa tiyi ndi zipatso, zomwe, malinga ndi malingaliro awo, zimathandizira kuti pakhale chitsulo. Inde, mowa, womwe ndi chinthu chachikulu cha hepatotoxic, uyenera kuletsedwa mwamphamvu kwa odwala omwe ali ndi hemochromatosis. Kuphatikiza apo, ethanol yatsimikiziridwa kuti ichepetse kuphatikizira kwa hepcidin 20, 21.
Chithandizo choyambirira cha hemochromatosis chachikulu ndicho kukhetsa magazi. Kuchepetsa kuchuluka kwa maselo ofiira am'magazi, omwe ndi gawo lalikulu loyambitsa chitsulo mthupi, potero kuchepetsa ndi kuchepetsa kuyimitsidwa kwazitsulo. Odwala angafunike ma magazi a 50-100 pachaka, 500 ml iliyonse, kuti achepetse kuchuluka kwazitsulo kukhala zabwinobwino. Mulingo wachitsulo utasintha, moyo wonse, koma kuthilira magazi kocheperako kumafunikira, nthawi zambiri 3-4 pachaka. Cholinga choperekera magazi ndikusunga ferritin wambiri 50-100 µg / L. Pankhani ya kuchepa kwakukulu kwa hemoglobin pambuyo pakukhetsa magazi, ndi bwino kulandira chithandizo cha erythropoietin.
Ngati hemochromatosis yapezeka koyambirira kwa matendawa, kulandira magazi mosavomerezeka kungalepheretse kusokonezeka kwa ziwalo zomwe zakhudzidwa ndipo potero kumawonjezera chiyembekezo chodwala. Komabe, odwala samakhala ndi moyo woposa zaka ziwiri atazindikira kuti ali ndi vuto la mochedwa pa siteji ya mawonetseredwe azachipatala 22, 23.
Malinga ndi European Association for the Study of the chiwindi (EASL 2010), zikuwonetsa kuti magazi azithamanga ndizokwera kwambiri kwa serum ferritin. Ndikulimbikitsidwa kuti kuthamanga kwamankhwala othandizira omwe ali ndi kuchuluka kwa 400-500 ml kuchitike kamodzi pa sabata kapena kamodzi pa masabata awiri mpaka ferritin mlingo wa 45% ufike ndikuwonjezeka kwa serum ferritin mpaka 1444 mcg / l, kuzindikira kwa hemochromatosis ndikosatsutsika. Zitsanzo za DNA zinafufuzidwa kuti zisinthe mtundu wa HFE - masinthidwe C282Y (c.845 G> A) adapezeka mu homozygous state s.845A / s.845 A.
Chifukwa chake, kupezedwa kwa wodwala K. ndi chibadwa cha hemochromatosis, kusintha kwa homozygous mu genet ya HFE (C288Y / C288Y) yowonongeka kwa chiwindi chachikulu, kalasi 1 fibrosis (FibroScan, Metavir 6.6 kPa).
Kuwonekera kwakanthawi ndikuwazindikira matendawa ali ndi zaka 58 mu 2015 ndi chifukwa chobwezeredwa kwakanthawi kwamatendawa chifukwa cha kuchepa kwa magazi chifukwa cha magazi akusamba, chopereka chamagazi, kuchepa kwa magazi panthawi yoletsa kubereka komanso kubereka.
Ndizofunikira kudziwa kuti zaka 8 zadutsa kuchokera kuzizindikiro zoyambirira za matendawo kupita kutsimikizira kwa matendawo! Kuyambira kumapeto kwa chaka cha 2015, wodwalayo adalandira chithandizo chamankhwala - kukhetsa magazi kwa 500 ml kamodzi pa sabata. Wodwalayo adalekerera kukhathamiritsa magazi, adaona kusintha kwakukulu potsatira njira yoyamba. Kuyesedwa kwa magazi ndi ferritin yamagazi ambiri amayang'aniridwa, momwe mlingo wake unachepera. Pazonse, kudutsa magazi kopitilira 100 kudachitika mzaka ziwiri, koma pakadali pano gawo la transferin (100 μg / l) silinachitike chifukwa wodwalayo amadumpha njirayi, akumamufotokozera. Pakadali pano, wodwalayo akupitilirabe chithandizochi, adatha kumuwonetsa kuti akufunika chithandizo chamoyo wonse.
Chifukwa chake, ziyenera kukumbukiridwa kuti pamaso pa cytolytic syndrome mwa odwala, cholowa cha hemochromatosis ziyenera kuphatikizidwa pakusaka kwa matenda. Mankhwalawa posankha chibadwire hemochromatosis pakadali pano ali magazi. Chithandizo chokwanira chomwe chinayambika pakapita nthawi chimapewetsa chitukuko cha matenda ndipo izi zimakulitsa chiyembekezo cha odwala.

Zambiri za alembawo:
Voloshina Natalya Borisovna - woyimira masayansi azachipatala, pulofesa wothandizira propaedeutics matenda amkati a chipatala
Osipenko Marina Fedorovna - dokotala wa sayansi ya zamankhwala, prof., Mutu. cafe propaedeutics matenda amkati a chipatala
Voloshin Andrey Nikolaevich - Dokotala wa chipatala cha Novosibirsk City Clinical 2

Hemochromatosis: nthenda yanji?

Kuti mumvetse tanthauzo la matendawa, muyenera kudziwa kuchuluka kwa chitsulo chomwe munthu ayenera kukhala nacho. Mwa amuna, chitsulo chimakhala pafupifupi 500-1500 mg, ndipo mwa akazi, kuyambira 300 mpaka 1000 mg. Zizindikiro zimangotengera osati jenda, komanso kulemera kwa munthuyo. Oposa theka la kuchuluka kwazitsulo zonse zili mu hemoglobin.

Pafupifupi 20 mg ya microelement iyi imalowa m'thupi ndi chakudya patsiku. Mwa awa, 1-1,5 mg yokha imamenyedwa m'matumbo. Ndi hemochromatosis (GC) kapena siderophilia, monga momwe matendawa amatchedwanso, kuyamwa kumawonjezeka mpaka 4 mg patsiku, ndipo chitsulo chimadziunjikira pang'onopang'ono mu minofu ya ziwalo zosiyanasiyana.

Chiwindi chathanzi komanso hemochromatosis

Kuchuluka kwake kumawononga mamolekyulu a mapuloteni ndi zakudya, motero gawoyo palokha. Odwala omwe ali ndi GC, kuchuluka kwa chitsulo mu chiwindi kumatha kufika 1% yaumidwe wouma wa chiwalo, womwe umadzazidwa ndi matenda amisempha, komanso gawo limodzi mwa magawo atatu a khansa ya chiwindi. Zowonongeka ndi chitsulo chowonjezereka, kapamba amatha kupereka chidwi kuti chikule.

Kuyika mu pituitary gland, chitsulo chimawononga dongosolo lonse la endocrine. Ziwalo zoberekera zimavutika kwambiri kuposa ena: Amuna amakhala ndi vuto losagwirizana, ndipo azimayi amatha kubereka.

Zomwe zimachitika

Cholinga chachikulu cha GC ndi "zolakwika" za jini, kapena, mtundu wa HFE. Ndiye amene amawongolera machitidwe a kapangidwe ka mankhwala ndi kuchuluka kwa chitsulo cholowa mthupi monga gawo la chakudya. Kusintha komwe kumachitika kumabweretsa chisokonezo chachitsulo.

Zomwe zimayambitsa GC ndi:

• thalassemia. Mwanjira iyi, mawonekedwe a hemoglobin amawonongedwa ndi chitsulo.
• chiwindi
• chitsulo chimatha kuwonjezeka chifukwa chogwiritsa ntchito magazi pafupipafupi. Chowonadi ndi chakuti nthawi yayitali yachilendo maselo ofiira achilendo ndi ofupikirapo kuposa awo. Akamwalira amasula chitsulo.
• hemodialysis njira.

Khodi ya ICD-10 ndi gulu

M'magulu a anthu omwe amavomerezedwa ndi matenda a GC, code E83.1 yaperekedwa.

Mitsempha ya etilogical, pulayimale (kapena cholowa cha GC) ndi sekondale imasiyanitsidwa:

• choyambirira. Matenda amtunduwu ali ndi chibadwa chabadwa ndipo chotsatira cha chilema mu dongosolo la enzyme lomwe limakhudza kagayidwe kachitsulo. Amapezeka mwa anthu atatu mwa anthu 1000. Amadziwika kuti abambo amatenga matenda amtunduwu ndipo amavutika kwambiri katatu kuposa azimayi,
• sekondale. Zomwe zimayambitsa ndi matenda a chiwindi cha wodwala (omwe nthawi zambiri amawonedwa ndi zakumwa zoledzeretsa), kuthira magazi, kudzichitira nokha mavitamini omwe amakhala ndi chitsulo chambiri. Zomwe zimapangitsa kuti akhale ndi GC ndizovuta za pakhungu ndi matenda a magazi.

Primary hemochromatosis (PCH) imadziwika ndi chitukuko pang'onopang'ono, ndipo koyambirira, odwala amadandaula kuti watopa. Amatha kuvutitsidwa ndi kupweteka kumbali yakumanja ndi khungu louma.

Gawo lowonjezedwa la PCH limadziwika ndi:

• mtundu wa nkhope, khosi, mikono ndi mikwingwirima. Amavala zovala zamkuwa,
• matenda a chiwindi. Amapezeka pama 95% a milandu,
• kulephera kwa mtima
• nyamakazi
• shuga mellitus: 50% ya milandu,
• ndulu zokulitsidwa,
• kusowa pogonana.

M'magawo omaliza, matenda oopsa a portal ndi ascites amawonedwa. Khansa ya chiwindi imayamba.

Popeza chitsulo chowonjezera chimapangidwa pakapita zaka, zizindikiritso zoyambirira za sekondale ya GC zimawonekera mwa amuna pambuyo pa zaka 40, ndipo mwa akazi pambuyo pa zaka 60.

Zizindikiro zake ndi izi:

• melasma,
• kutopa ndi kuchepa thupi,
• yafupika libido
• kukulitsa ndi kufalikira kwa minyewa ya chiwindi,
• cirrhosis (gawo lomaliza la GC).

Kuyesa kwa magazi ndi njira zina zodziwira matenda

Dokotala wazachipatala amatsimikizira kuti amadziwika ndi matendawa. M'mayambiriro oyamba a matendawa, kuyesedwa kwa labotale ndikofunikira kwambiri.

Ndi GC, kuyesedwa kwapadera kwa magazi kumachitika kuti muwone zofunikira za chitsulo mu plasma, kuthekera kwake kotsika kwa chitsulo ndikudzikulitsa ndi transerrin.

Chizindikiro chachikulu cha matendawa ndi hemosiderin amaika mu hepatocytes a chiwindi, pakhungu ndi ziwalo zina, zomwe zimakhala "dzimbiri" chifukwa chochulukirapo. Kuyesedwa kwa magazi kofunikira kumafunikiranso pakuwonetsa zamankhwala am'thupi, komanso shuga. Kuphatikiza apo, kuyesedwa kwa chiwindi kumatengedwa.

Kuphatikiza apo, maphunziro othandiza amachitidwanso:

• chiwindi biopsy ndiye njira yayikulu yotsimikizira GC,
• Ultrasound yam'mimba
• Chiwindi MRI (nthawi zina)
• echocardiography, kupatula / kutsimikizira zamtima,
• kuphatikiza radiology.

Mankhwala othandizira

Ndikofunikira kumvetsetsa kuti ndi hemochromatosis wodziwika bwino, kudya kuyenera kukhala kwa moyo wonse.

Lamulo lalikulu ndikuchepetsa kwambiri zakudya zamagulu azitsulo, makamaka:

• tchizi zolimba ndi nsomba zam'nyanja,
• chimanga: oat, mapira ndi ng'ombe
• buledi wakuda
• nyemba ndi zipatso zouma,
• ascorbic acid ndi mankhwala okhala ndi mavitamini C ambiri,
• offal, makamaka chiwindi, sichitha konse.

Mowa umakhala wopanda tanthauzo. Koma tiyi ndi khofi, m'malo mwake, akuwonetsedwa. Ali ndi tannin, amene amachepetsa kuyamwa kwachitsulo.

Mndandanda wa mankhwala ogwiritsidwa ntchito

Mankhwalawa amachitika ndi mankhwala omwe amachotsa chitsulo m'thupi la wodwalayo. Pa gawo loyamba, mavitamini A, E ndi folic acid ndi omwe amapatsidwa. Kenako chelators (monga Desferal) amagwiritsidwa ntchito.

Mlingo wa jekeseni: 1g / tsiku. Patha 500 mg wa mankhwalawa amapereka zotsatira zowoneka: mpaka 43 mg wachitsulo amachotsedwa. Maphunzirowa amatha mpaka miyezi 1.5. Kugwiritsa ntchito kwa nthawi yayitali ndi koopsa: kuyambitsanso mandala ndikotheka.

Phlebotomy ndi njira zina zochizira

Phlebotomy ndiyosavuta kwambiri ndipo, munthawi yomweyo, chithandizo chamankhwala chosagwirizana ndi mankhwala cha GC.

Choboola chimapangidwa m'mitsempha ya wodwala, ndipo magazi amatuluka m'thupi. Pafupifupi 500 ml amatsanulidwa sabata limodzi.

Njirayi imangotuluka. Magazi amayesedwa pafupipafupi kuti apatsidwe ferrin: ayenera kugwera mpaka 50. Izi zimatha kutenga zaka 2-3. Kuphatikiza apo, mankhwalawa amayang'aniridwa kuti akhalebe oyenera pazinthuzi.

Kuchiza ndi wowerengeka azitsamba

Mankhwalawa amathandizira odwala matenda ofooka.

Chithandizo cha chiwindi:

• dzungu. Ndi yabwino yonse yaiwisi ndi yophika. Masamba amawonjezeredwa ku saladi kapena kusakanizidwa ndi uchi - chokoma komanso chopatsa thanzi! Madzi a dzungu amawonetsedwanso: theka lagalasi pamimba yopanda kanthu,
• kachiromboka-Chinthu china chothandiza cha GC. Gwiritsani ntchito yaiwisi kapena yowiritsa. Wathanzi komanso wathanzi watsopano.

Kwa chithandizo cha mtima, mutha kulangiza infusions wa hawthorn, adonis kapena mamawort. Zitsamba zimathiridwa ndi madzi otentha ndipo, atatha kukakamira, amaledzera malinga ndi malangizo.

Chithandizo cha kapamba:

• kutsitsa mbewu kungathandize. Kukula: 1 tbsp. zida zopangira 1 tbsp. madzi. Mbeu zodulidwa zophika kwa mphindi 5, utakhazikika ndi kumwa musanadye, 1 tbsp.,
• uchi ndi sinamoni. Kukula: 1 tbsp. ufa kwa 1 tbsp ya madzi. Kuumirira mphindi 15-30. ndi kuwonjezera uchi. Siyani kwa maola ena awiri. Njira zonse zimayenera kuledzera tsiku limodzi.

Oatmeal othandiza komanso osaphika (ndi mankhusu). Kukula: 100 ga phala kuti 1.5 malita a madzi. Wiritsani kwa theka la ola. Kenako, m'mbale momwe momwe oats anaphikidwira, ndikuphwanya mpaka gruel ndikuwiritsanso kwa mphindi 40. Moyo wa msuzi wosefedwayo suwapitilira masiku awiri. Imwani kapu imodzi theka musanadye.

Kuzindikira komanso malangizo akulu azachipatala

Koma ngati chithandizocho chikuchitika moyang'aniridwa ndi achipatala komanso pa nthawi, ndiye kuti moyo wa wodwalayo ukuwonjezeka.

Pokhala matenda obadwa nawo, hemochromatosis mu 25% ya milandu amapezeka mwa abale ake. Chifukwa chake, ayenera kuyesedwa. Izi zikuwulula matendawa ngakhale mawonetsedwe azachipatala komanso mtsogolo popewa zovuta zake.

Pankhani ya sekondale ya GC, zakudya zimalimbikitsidwa, ndikofunikira kuti chitetezo cha chiwindi ndi magazi zizilamulidwa. Hemochromatosis yomwe yapezeka nthawi yapakati (kapena pa kukonzekera) siowopsa.

Makanema okhudzana nawo

Pazizindikiro, zoyambitsa ndi njira zochizira hemochromatosis mu kanema:

Tsoka ilo, chifukwa chachikulu cha hemochromatosis sichinadziwikebe. Koma pakadali pano, njira yapadera yokwaniritsira chithandizo yapangidwa ndipo ikugwiritsidwa ntchito mwachangu, cholinga chake ndikusokoneza mawonetsedwe azachipatala ndikuchepetsa chiopsezo cha zovuta zake.

• Imakhazikika pamisempha ya shuga kwa nthawi yayitali
• Imabwezeretsa kapangidwe ka insulin

Phunzirani zambiri. Osati mankhwala. ->

Therapy Wodwala Matendawa

Chuma chambiri mu ziwalo zimatsogolera pakupanga ma pathologies angapo. Zonsezi zimafuna mankhwala othandizira. Mwachitsanzo, ngati GC idathandizira kuti matenda ashuga azikhala, othandizira ayenera kuthandizidwa, nthawi zonse amasunga shuga.

Ngati matenda a chiwindi awonekera, mankhwalawa akupitirirabe. Izi ndizofunikira kuti tipewe kukula kwa matenda a m'matumbo kuti apite pakhungu lotupa.

Hemochromatosis

Hereditary hemochromatosis (NG) ndi matenda apazitsulo zochokera ku chibadwa cha chitsulo chosapangika, zomwe zimapangitsa kuti azikundika kwambiri mthupi komanso kuwonongeka kwa ziwalo ndi minofu.

Kafotokozedwe koyamba ka matendawa ndi A. Trousseau (1865), yemwe adawonetsa chiwonetsero chachikulu cha mawonetseredwe azachipatala: matenda a shuga, khungu lamkuwa wamkati, khungu. Mawu oti "hemochromatosis" adavomerezedwa mu 1889 ndi F.D. von Recklinghausen. Kuyambira 1935, matendawa ndi a gulu la matenda obadwa nawo. Mu 1996, J.N. Feder et al. adazindikira mtundu wa chibadwa cha hemochromatosis (HFE), kusintha komwe nthawi zambiri kumabweretsa kukula kwa matendawa. Mu 2000-2004 masinthidwe amitundu yina yomwe imatsogolera pakupanga kwa hemochromatosis akufotokozedwa.

Matenda ofala kwambiri amasiyana kuchokera pa anthu 1: 250 omwe amakhala kumpoto kwa Europe mpaka 1: 3300 mwa anthu akuda aku USA ndi mayiko aku Africa. Matendawa amapezeka mwa amuna nthawi 5-10 mochulukirapo kuposa azimayi. Pa kuwunika kwa majini, kunapezeka kuti kusintha kwa mtundu wa HFE kwapezeka mwa 1 mwa 500 omwe adawerengedwa, pomwe kuchuluka kwa milandu yodalirika ya NG ndi 1: 5,000. Chifukwa chake, kuchuluka kwazovuta za matendawa sikumazindikiridwa kapena kuzindikirika mochedwa, pamlingo wowonongeka kwamkati. ziwalo (cirrhosis, matenda a shuga, shuga a mtima).

Malinga ndi chibadwa cha matendawa, mitundu inayi ya matenda obadwa nawo a hemochromatosis ndiosiyanitsidwa:

Mtundu Woyamba - wobadwa ndi makina ogwiritsira ntchito mtima, chifukwa cha kusintha kwa mtundu wa HFE womwe uli pa chromosome 6. Nthawi zambiri (mu 87-90% ya odwala), kusintha kwa C282Y kwalembedwa - kusintha kwa cysteine ​​ndi tyrosine mu 282nd amino acid. Kusinthika kwa H63D sikwachilendo - kusintha kwa cytidine ndi guanine mu 63 amino acid,

Mtundu Wachiwiri - ana hemochromatosis ndi osowa, chifukwa cha kusintha kwa majini komwe kumayambitsa mapuloteni ena a metabolism a chitsulo - hepsidin,

Mtundu Wachitatu - pamtundu wa majini umakhala ndi masinthidwe amtundu wa genet encerring receptor synthesis,

Mtundu IV - chibadwa chimakhala ndi masinthidwe amtundu wa SLC40A1, womwe umakhazikitsa kapangidwe ka mapuloteni a ferroportin.

Etiology ndi pathogenesis

Iron ndi gawo lofunikira la microchemical of the most yofunika metabolic process, kumbali imodzi, ndipo ndi chinthu choopsa chomwe chitha kupangitsa kuwonongeka kwa mapangidwe a michere, maproteni ndi ma nucleic acids. Malinga ndi izi, chitsulo homeostasis m'thupi la munthu chimayendetsedwa mwamphamvu. Zambiri zimachitika mobwerezabwereza: macrophages a ndulu ndikuwagwira chiwindi ndikuwononga maselo ofiira am'magazi, kumapangitsa manyazi a hemoglobin ndikumasula chitsulo, chomwe chimamangiriza ku transerrin kapena ferritin ndipo chimapangidwanso. Kutayika kwatsiku ndi tsiku kwazitsulo sikupitirira 1-2 mg ndipo kulipidwa ndi kuyamwa kwa chitsulo chofanana m'matumbo am'mimba. Palibe njira zomwe zimayang'anira kuchotsedwa kwachitsulo mwa anthu.

Kusintha kwa majini omwe amayambitsa kuphatikizika kwa mapuloteni omwe amakhudzidwa ndi metabolism ya chitsulo kumayambitsa kusamvana pakati pakudya ndi kuwonongeka kwa chitsulo, kukhudzika kwazinthuzi m'ziwalo ndi minofu, komanso mawonekedwe a chitsulo chaulere (chosagwirizana ndi transerrin) m'magazi. Kukula kwamtundu I hemochromatosis kumalumikizidwa ndi kusintha kwa majini omwe amayambitsa kapangidwe ka mapuloteni a HFE (mapuloteni a hemochromatosis), omwe ndi glycoprotein (MM = 37,235 daltons), ofanana mu mapuloteni a main histocompatability tata a kalasi 1. Ntchito ya HFE mapuloteni achitsulo kagayidwe kake ndi kagwiritsidwe kakang'ono ka kuyamwa kwazitsulo pa kusintha kwa mtundu wa HFE sikunakhale kokhazikika.

The pathogenesis ya mtundu II-IV hemochromatosis imagwirizanitsidwa ndi masinthidwe amitundu omwe amapanga mapuloteni ena okhudzana ndi metabolism ya chitsulo - hepsidin, transerrin receptor-II, ferroportin.
Mbali yodziwika bwino ya mtundu IV NG, yomwe imakhazikitsidwa ndi kusintha kwa ferroportin gene, ndikuphwanya kwakukulu njira zachidziwitso zachitsulo, zomwe zimadziwonetsa ngati kuchepa kwa magazi m'thupi komanso kuchepa kwa mchere wa erythropoiesis kuphatikizira ndi hemochromatosis wamkati.

Kuphatikizika kwazitsulo mu ziwalo za parenchymal kumalumikizidwa ndi kusintha kwachilengedwe mu cell parenchyma ndi kukula kwapang'onopang'ono kwa minofu ya fibrous, komwe kumayambitsa kusasinthika kwa ziwalo zofunika. Ziwalo zomwe zitha kusowa chiopsezo kwambiri ndizo chiwindi, mtima, ndi kapamba.

Zizindikiro zamankhwala

Chithunzi cha chipatala cha NG chimatsimikiziridwa ndi mulingo wokuza kwazitsulo mu ziwalo ndi minofu. Ndi matenda oopsa a Type I, mawonetsedwe azachipatala nthawi zambiri amapezeka azaka zapakati pa 45-50 ndi akulu. Mu achinyamata hemochromatosis (mtundu II), zilonda zamkati ndi mtima zimawonekera koyambirira - chakhumi kapena chachitatu cha moyo. Mwa amuna, mawonetseredwe azachipatala amawonekera katatu kuposa akazi, omwe amalumikizidwa ndi mawonekedwe a thupi. Mawonetsero akulu azachipatala amaphatikizapo zizindikiro zowonongeka kwa chiwindi, mtima, ziwalo za endocrine dongosolo ndi mafupa.

Zizindikiro za kuwonongeka kwa chiwindi zimatha kupezeka pakuwunika mosawerengeka mu mawonekedwe a kuchuluka kosaneneka kwa transaminases kapena koyamba ndi zizindikiro za matenda oopsa a portal: ascites, hepatosplenomegaly, magazi ochokera m'mitsempha ya varicose ya esophagus ndi m'mimba.

Zizindikiro za kuwonongeka kwa mtima zimaphatikizapo kugunda kwamtima, kukulira kwa arrhythmias, ndi zizindikiro zakulephera kwa mtima. Cardiomyopathy kwambiri ndiyo imatsogolera kwambiri kufa kwa achinyamata.

Kukula kwa matenda ashuga komanso kusowa kwa chithokomiro ndi zizindikiro zina za NG. Kwa amuna, testicular atrophy, kuchepa kwa kugonana, kusabala, azospermia nthawi zambiri zimawonedwa, mwa akazi - amenorrhea, osabereka.

Kuwonongeka kwa mafupa kumawonetsedwa ndi arthralgia, kulumikizana kwa metacarpophalange nthawi zambiri kumachitika, nthawi zambiri mawondo, m'chiuno, ndi m'chiwuno. Kuuma kwa mafupa kumayamba pang'onopang'ono.

Zowonetsa zina zamankhwala za NG zimaphatikizaponso kufooka kosasunthika, kutopa, kugona, kupweteka kwam'mimba kwa mitundu yosiyanasiyana ndikulowera kwawoko, kuchepa kwa khungu, komanso chizolowezi cha matenda osiyanasiyana (kuphatikiza ma tizilombo tosiyanasiyana omwe samakhudza anthu athanzi - Yersenia enterocolitica ndi Vibrio vulnificus).

Kuzindikiritsa kwa NG kumakhazikitsidwa pamaziko a chithunzi chazachipatala komanso cha labotale.Ndikosavuta kukayikira kuti wapezeka ndi matenda a hemochromatosis wodwala wophatikizika ndi zizindikiro zotsatirazi: arthralgia, kupweteka kwam'mimba, khungu laimvi la bronze, kupezeka kwa matenda a shuga ndi hepatomegaly.

Kuyesa kwa Magazi: kuphatikiza kwapamwamba kwambiri kwa hemoglobin ndi hemoglobin yotsika kwambiri mu erythrocyte (MCH) ndi khalidwe. Kukula kwa kuchepa kwa magazi m'thupi kapena cytopenia wina kumawonedwa kumapeto kwa matendawa - odwala omwe ali ndi vuto la chiwindi, kapena chifukwa cha kukhetsa magazi ambiri.

Kuphunzira kagayidwe kazitsulo Chofunikira kuzindikira zizindikiritso za labotale zachitsulo zochulukirapo ndipo zimaphatikizira kutsimikiza kwa mulingo wa chitsulo, ferritin ndi transerrin yamagazi yamagazi, mphamvu yonse yazitsulo za seramu (OZHSS) komanso kuchuluka kwa chitsulo chosakanizira cha iron (NTZH). NG imadziwika ndi kuwonjezeka kwa seramu iron ndi ferritin, kutsika kwa milingo ya OGSS ndi transerrin. Chizindikiro chofunikira cha labotale cha hemochromatosis ndikuwonjezereka kwa kufalikira kwa matenda opatsirana pogonana mwa amuna oposa 60%, mwa akazi - oposa 50%.

Yesani mayeso imatsimikizira kupezeka kwa kuchuluka kwachitsulo: pambuyo pa intramuscular 0,5 g ya deferoxamine (desferal), kutulutsa kwatsiku ndi tsiku kwamkodzo kwamkati kumadutsa mulingo woyenera (0-5 mmol / tsiku).

Mu mtundu wa IV NG, chithunzi cha labotale chitha kuyimiriridwa ndikuzama hypochromic anemia, hyposiderinemia ndi kukwezedwa kwa serum ferritin, yomwe imaphatikizidwa ndi minofu yambiri yokhala ndi chitsulo.

Kuthandiza maselo a ma genule imakupatsani mwayi wotsimikizira chikhalidwe cha hemochromatosis ndikupatula mtundu wachiwiri wachuma. Kuzindikiritsa kwa NG kumakhazikitsidwa pamaso pa kusintha kwa mtundu wa HFE (C282Y kapena H63D) kapena zovuta kwa heterozygotes (kuphatikiza kwa kusintha kwa heterozygous C282Y ndi H63D) komwe kumapezeka kwa odwala omwe ali ndi zizindikiro za labotale. Kusinthanitsa kwa heterozygous masinthidwe C282Y ndi H63D amapezeka mwa anthu amoyo wathanzi omwe amakhala ndi pafupipafupi pa 10,6% ndi 23,4% ya milandu, kukhalapo kwa kusinthaku sikukukhala maziko a matenda a NG.

CT scan ya ziwalo zam'mimba imawulula kachulukidwe kakang'ono ka minofu ya chiwindi chifukwa cha ma iron azitsulo ndikulola kupezeka kwa hemochromatosis kukayikiridwa.

Ndili ndi MRI chiwindi cha wodwala ndi hemochromatosis chimakhala ndi imvi kapena mtundu wakuda. CT ndi MRI ya chiwindi ndiyofunikira kupatula kuzindikiritsa kwa hepatocellular carcinoma.

Chiwindi biopsy ndi kuchuluka kapena kuchuluka kwa kutsimikiza kwazitsulo kumakupatsani mwayi wodziwa kukula kwa microsis ndi kuchuluka kwa chitsulo mu minyewa ya chiwindi. Pozindikira matenda a hemochromatosis, tikulimbikitsidwa kuwerengera "hepatic iron index", womwe ndi wofanana ndi muyezo wazitsulo zomwe zimapezeka m'matumbo a chiwindi (mu micromol / g kulemera kowuma) kufikira msinkhu wa wodwala (wazaka). Mlozera> 2.0 umatsimikizira kuti NG.

Hereditary hemochromatosis iyenera kusiyanitsidwa ndi yachiwiri iron overload syndromes, yomwe imapangika mwa odwala omwe ali ndi cholowa ndipo amatenga hemolytic anemia, mitundu ina ya myelodysplastic syndrome (Reflexory sideroblastic anemia), porphyria, komanso odwala omwe akuwonongeka chiwindi.

Cholinga cha chithandizo cha NG ndikuchotsa chitsulo chochuluka mthupi komanso kupewa kuwononga ziwalo zamkati. Njira yodziwika yodziwira mankhwala ndi kukhetsa magazi. Maphunzirowa oyamba amakhala ndi kukhetsa magazi mu 500 ml kamodzi pa sabata. Pambuyo kutsitsa hemoglobin ndi 15-20 g / l, MCV ndi 3-5 fl. ndi ma seramu ferritin mpaka 20-50 ng / ml, pitani kukakonza mankhwala - kuchotsa 500 ml ya magazi miyezi iwiri iliyonse mwa amuna ndi miyezi 3-6 iliyonse mwa akazi. Mankhwalawa ndi amoyo wonse.

Pamaso pa kuchepa kwa magazi m'thupi kapena zinthu zina zotsutsana (mwachitsanzo, kulephera kwa mtima), oyang'anira zitsulo amagwiritsidwa ntchito pakukhetsa magazi. Deferoxamine imamanga chitsulo chowonjezera mumtundu ndi seramu yamagazi ndikuwachotsa mkodzo ndi ndowe. Komabe, theka la moyo wa mankhwalawa ndi lalifupi - mphindi 10 zokha, zomwe zimafunikira pang'onopang'ono m'magawo a infusions a ora atatu kapena mosanjira, makamaka mu mawonekedwe a maola 12 kapena ozungulira-maola otentha ogwiritsa ntchito mapampu apadera. Mankhwala atsopano opangira pakamwa pakamwa apangidwa ndipo ali pakalasi yophunzira kapena kukhazikitsa, yomwe othandiza kwambiri ndi Deferasirox.

Kuchita bwino kwa mankhwalawa kumatsimikiziridwa ndi kusinthasintha kwa zamankhwala ndi zamankhwala zasayansi. Mkhalidwe wa odwala amayamba kuyenda pambuyo poti atha kukhetsa magazi: kufooka, kutopa, kugona, kutha, kukula kwa chiwindi kumachepa, maphunziro a shuga ndi mtima zimatha kusintha. Laboratory control imaphatikizapo kuphunzira hemogram, zizindikiro za ferritin, chitsulo ndi NTZH (nthawi 1 m'miyezi itatu), mulingo wa kukodza kwamayendedwe a iron.

Pankhani yakudziwitsidwa koyambirira kwa matenda oopsa komanso kuthana ndi magazi nthawi yayitali, matendawa ndi abwino: chiyembekezo cha moyo wa odwala sichimasiyana ndi chiyembekezo chamoyo chomwe anthu omwe alibe akudwala hemochromatosis. Mu milandu ya matenda mochedwa, pamaso pa chiwindi matenda enaake, matenda a shuga, mathedwe amatsimikiza ndi kuopsa kwa zovuta zosasinthika izi. Zomwe zimayambitsa kufa kwa odwala ndi izi: zovuta za matenda ashuga, kukomoka kwa mtima, khansa ya chiwindi, kulephera kwa chiwindi, magazi kuchokera m'mitsempha ya varicose ya m'mimba ndi m'mimba, matenda apakati.

Zambiri

Hemochromatosis (shuga ya bronze, pigmentary cirrhosis) ndi kuphwanya kwaumbidwe wachitsulo, zomwe zimapangitsa kuti ziwonetsero zokhala ndi utoto wachitsulo mu minofu ndi ziwalo komanso chitukuko cha ziwalo zingapo zithe. Matendawa, omwe amaphatikizidwa ndi chizindikiritso cha khungu (pakhungu pakhungu, chiwindi ndi matenda a shuga) adafotokozedwa mu 1871, ndipo mu 1889 adatchedwa hemochromatosis chifukwa cha mawonekedwe amtundu wakhungu ndi ziwalo zamkati. Pafupipafupi kuchuluka kwa cholowa cha hemochromatosis mwa anthu ndi 1.5-5 milandu pa anthu 1000. Amuna amadwala hemochromatosis pafupipafupi katatu kuposa akazi. Avereji ya zaka zapakati pa kukhazikitsidwa kwa matenda am'mimba ndi zaka 40-60. Chifukwa cha mawonekedwe a polysystemic a lesion, maupangiri osiyanasiyana azachipatala amaphatikizidwa pakuphunzira za hemochromatosis: gastroenterology, cardiology, endocrinology, rheumatology, etc.

Mu gawo la etiological, cholowa (cholowa) komanso chachiwiri cha hemochromatosis chimasiyanitsidwa. Hemochromatosis ya pulayimale imalumikizidwa ndi chilema mu kayendedwe ka enzyme, zomwe zimayambitsa kuyika kwazitsulo mkati mwa ziwalo zamkati. Kutengera vuto la chibadwa komanso chithunzi cha chipatala, mitundu inayi ya hemochromatosis ya cholowa imasiyanitsidwa:

• Ine - mtundu wotsika kwambiri wa matendawa, mtundu wokhudzana ndi HFE (zochulukirapo 95%)
• II - mtundu wachinyamata
• III - mtundu wobadwira wa HFE-wosasinthika (masinthidwe mu mtundu wa 2 wa recerror receptor 2)
• Mtundu wotchuka wa IV- autosomal.

Second hemochromatosis (generalized hemosiderosis) imayamba chifukwa cha kupezeka kwa mphamvu ya ma enzyme omwe amaphatikizidwa ndi kagayidwe kachitsulo, ndipo nthawi zambiri imakhudzana ndi matenda ena, omwe amachititsa kusiyanasiyana kwake ndi izi: kusintha kwa magazi, kupatsa thanzi, metabolic, kusakanikirana komanso kusamvana.

Mu kliniki ya matenda, hemochromatosis imadutsa magawo atatu: Ine - popanda kuchuluka kwachitsulo, II - ndi kuchuluka kwazitsulo, koma popanda zizindikiro zamankhwala, III - ndi chitukuko chowonetsera zamankhwala.

Zimayambitsa hemochromatosis

Chachikulu cholowa hemechromatosis ndi Autosomal recessive kufala matenda. Zimakhazikitsidwa pakusintha kwa mtundu wa HFE womwe uli pakatikati pa chromosome ya 6. Kulephera mu geni ya HFE kumabweretsa chisokonezo cholandidwa chachitsulo chosakanizidwa ndi maselo a duodenum 12, zomwe zimapangitsa kuti pakhale chisonyezo chabodza chokhudza kuchepa kwachitsulo mthupi. Chifukwa chake, izi zimathandizira kuphatikizika kwa mapuloteni osunga chitsulo a DCT-1 mwa ma enterocytes komanso kuyamwa kwazitsulo m'matumbo (ndi chizolowezi chotsatira zinthu zina za chakudya). Mtsogolomo, pali mawonekedwe ambiri a hemosiderin pigment omwe ali ndi ziwalo zamkati zambiri, kumwalira kwa zinthu zawo zomwe zimagwira ntchito ndikupanga njira za sclerotic. Ndi hemochromatosis, 0,5-1.0 g yachitsulo imadziunjikira chaka chilichonse m'thupi la munthu, ndipo mawonetseredwe a matendawa amawonetsedwa pamene kuchuluka konse kwazitsulo 20 kumafikira (nthawi zina 40-50 g kapena kuposa).

Sekondale hemochromatosis imayamba chifukwa chachulukidwe chakunja chachitsulo m'thupi. Vutoli limatha kuchitika pafupipafupi ngati kuthiridwa magazi, kudya magazi mosasamala, thalassemia, mitundu ina ya kuchepa kwa magazi, khungu la porphyria, matenda osokoneza bongo a chiwindi, matenda oopsa a hepatitis B ndi C, neoplasms yoyipa, kutsatira zakudya zochepa.

Zizindikiro za hemochromatosis

Kuwonetseredwa kwa matenda a chibadwa cha hemochromatosis kumachitika munthu akadzakula, pamene zitsulo zathunthu zathupi zimafika pazovuta zazikulu (20 mpaka 40). Kutengera ndi ma syndromes omwe akupezeka, hepatopathic (chiwindi hemochromatosis), mtima (mtima hemochromatosis), mitundu ya endocrinological yamatenda imasiyanitsidwa.

Matendawa amakula pang'onopang'ono, poyambira madandaulo osatchulika okhudza kuchuluka kwa kutopa, kufooka, kuchepa thupi, kuchepa kwa libido. Pakadali pano, odwala amatha kusokonezedwa ndi kupweteka mu hypochondrium yoyenera, khungu louma, arthralgia chifukwa cha chondrocalcinosis ya mafupa akulu. Pakukula kwa hemochromatosis, kuphatikizika kwa chizindikiro chachikulu, komwe kumayimiriridwa ndi khungu (khungu lamkuwa), cirrhosis, matenda a shuga, matenda a mtima, matenda a hypogonadism.

Nthawi zambiri chizindikiro choyambirira cha hemochromatosis ndimawonekedwe amtundu wakhungu ndi mucous nembanemba, ofotokozedwa makamaka pankhope, khosi, miyendo yakumtunda, m'mikwendo ndi kumaliseche kwakunja, zipsera za khungu. Kukula kwa pigmentation kumatengera nthawi yayitali ya matendawa ndipo imasiyanasiyana kuyambira imvi (smoky) mpaka brown. Khalidwe ndi kusowa kwa tsitsi kumutu ndi thunthu, kuwonekera kwa msomali (chosemphana ndi supuni). Ma arthropathies a metacarpophalangeal, nthawi zina olumikizana mawondo, m'chiuno ndi m'chiwuno amadziwika ndi kukula kwotsatira kwawo kuuma kwawo.

Pafupifupi odwala onse, kuwonjezeka kwa chiwindi, splenomegaly, cirrhosis ya chiwindi kumapezeka. Matenda a pancreatic amawonetsedwa pakupanga matenda a shuga a insulin. Zotsatira za kuwonongeka kwa pituitary gland pa hemochromatosis, zogonana zimakwanira: mwa amuna, testicular atrophy, kusabala, gynecomastia, mu azimayi - amenorrhea ndi kusabereka. Mtima hemochromatosis amadziwika ndi mtima ndi zovuta zake - arrhythmia, mtima kulephera, kulowererapo kwa mtima.

Mu gawo la hemochromatosis, matenda oopsa, ascites, cachexia amakula. Imfa ya odwala, monga lamulo, imachitika chifukwa cha kutuluka kwa magazi kuchokera kumitsempha ya varicose ya kum'mero, kulephera kwa chiwindi, kuperewera kwa mtima, matenda a shuga, aseptic peritonitis, sepsis. Hemochromatosis imachulukitsa mwayi wokhala ndi khansa ya chiwindi (hepatocellular carcinoma).

Matenda a hemochromatosis

Kutengera ndi zomwe zikupezeka, odwala omwe ali ndi hemochromatosis atha kufunafuna thandizo kuchokera kwa akatswiri osiyanasiyana: gastroenterologist, cardiologist, endocrinologist, gynecologist, urologist, rheumatologist, ndi dermatologist. Pakalipano, kuzindikira kwa matendawa ndi chimodzimodzi kwa matenda osiyanasiyana a hemochromatosis. Pambuyo pofufuza zizindikiro zamankhwala, odwala amapatsidwa maphunziro a labotale ndi othandizira kuti atsimikizire kuvomerezeka kwa matendawo.

Ma labotale a hemochromatosis ndiwowonjezera kuchuluka kwa chitsulo, ferritin ndi transerrin m'magazi a seramu, kuchuluka kowonjezera kwazitsulo mu mkodzo, ndi kuchepa kwa kuthekera kwathunthu kwa mphamvu ya seramu yamagazi. Kuzindikira kumatsimikiziridwa ndi puncture biopsy ya chiwindi kapena khungu, mu zitsanzo zomwe hemosiderin mawonekedwe amapezeka. Chikhalidwe cha chibadwa cha hemochromatosis chimakhazikitsidwa chifukwa chakuwunika kwa majini.

Pofuna kuwunika kuwonongeka kwa ziwalo zamkati ndi kuchuluka kwa matendawo, kuyezetsa kwa chiwindi, magazi ndi mkodzo m'magazi, glycosylated hemoglobin, etc. akuphunziridwa.

Mankhwalawa a Hemochromatosis

Cholinga chachikulu cha mankhwalawa ndikuchotsa zitsulo zochulukirapo m'thupi ndikuletsa kukula kwa zovuta. Odwala omwe ali ndi hemochromatosis amayesedwa zakudya zomwe zimaletsa zakudya zazitsulo zambiri (maapulo, nyama, chiwindi, burwheat, sipinachi, ndi zina zambiri). Sizoletsedwa kumwa multivitamini, ascorbic acid, zakudya zowonjezera zomwe zimakhala ndi chitsulo, mowa. Kuti achotse chitsulo chochuluka mthupi, amayamba kukhetsa magazi mothandizidwa ndi hemoglobin, hematocrit, ndi ferritin. Pachifukwa ichi, njira zowonjezera za hemocorrection zitha kugwiritsidwa ntchito - plasmapheresis, hemosorption, cytapheresis.

Mankhwala a pathogenetic a hemochromatosis amachokera pamitsempha kapena mtsempha wamkati wa deferoxamine womanga Fe3 + ions kwa wodwala. Nthawi yomweyo, mankhwala a cirrhosis a chiwindi, kulephera kwa mtima, matenda a shuga, ndi hypogonadism amachitika. Ndi arthropathy yayikulu, zikuwonetsa arthroplasty (endoprosthetics ya mafupa omwe amakhudzidwa) amatsimikiza. Odwala omwe ali ndi vuto la cirrhosis, nkhani ya kupatsirana kwa chiwindi ikuthandizidwa.

Kuneneratu komanso kupewa hemochromatosis

Ngakhale kuti matendawa akupita patsogolo, chithandizo chanthawi yake chokwanira chitha kupititsa patsogolo moyo wa odwala omwe ali ndi hemochromatosis kwazaka zambiri. Popanda chithandizo, pafupifupi chiyembekezo chokhala ndi moyo wa odwala pambuyo pakupezeka kwa matenda osapitilira zaka 4-5. Kukhalapo kwa mavuto a hemochromatosis (makamaka matenda a chiwindi komanso kuperewera kwamtima) ndi chizindikiro chosavomerezeka.

Ndi cholowa cha hemochromatosis, kupewa kumatsikira pakuwunika kwa mabanja, kuzindikira koyambirira ndi kuchiza matendawa. Zakudya zomveka bwino, kuyang'anira kayendetsedwe ka kayendetsedwe kazitsulo, kuthiridwa magazi, kukana kumwa mowa, ndikuwunika odwala omwe ali ndi matenda a chiwindi ndi dongosolo la magazi zimapangitsa kuti pasakhale kukula kwa hemochromatosis yachiwiri.