Matenda a shuga a phosphate mwa ana: zoyambitsa ndi zizindikiro

Matenda a Phosphate - a chibadwa chifukwa kuphwanya mchere kagayidwe, momwe mayamwidwe ndi khunyu wa phosphorous mu thupi amavutika, zomwe zimatsogolera matenda a chigoba. Malinga ndi zomwe zaposachedwa, ndi gulu lonse la matenda obadwa nawo. Amawonetsedwa ndi kukhathamiritsa kwa minofu, mafupa am'mimba (varus deformities of bones the m'mphepete, rickets ndi ena), kukula kubweza. Kuzindikira matenda ashuga a phosphate kumatengera zotsatira za kuyesedwa kwa magazi ndi mkodzo (mulingo wa alkaline phosphatase, calcium ions, mawonekedwe othandizira a vitamini D) ndikuwunika ma genetic. Chithandizo cha matendawa chimachitika pofotokoza kuchuluka kwa vitamini D, phosphorous ndi calcium, mankhwala amitsempha kapena opaleshoni ya mafupa.

Zambiri

Phosphate matenda ashuga (Vitamini D osagwira) mavitamini ndi dzina limodzi la tubulopathies (matenda amisempha yofalitsa matenda m'matumbo a impso), komwe kubwezeretsanso mafupa a phosphate kumalephera chifukwa cha kuchepa kwa thupi. Chimodzi mwazinthu zodziwika bwino zamatendawa, zomwe zimafalitsidwa ndi makina akuluakulu a X chromosome, zidafotokozedwanso mu 1937. M'zaka zotsatira, akatswiri a majini akuwulula mitundu ingapo ya matenda ashuga a phosphate omwe ali ndi mitundu yosiyanasiyana, kufalikira kwa chibadwidwe chake komanso chithunzi cha matenda. Komabe, onsewa ali ndi mawonekedwe ofanana - amayamba chifukwa cha kufooka kwa phosphorous mu impso, amakhala ndi zizindikiro zofanana ndi mankhwala ndipo ali ndi vuto losagwiritsidwa ntchito mwazomwe amapezeka ndi vitamini D. Mpaka pano, mitundu ya anthu am'mbuyomu ya matenda a chifuwa chachikulu yapezeka, kufalitsa kumene kumalumikizidwa ndi X chromosome ( zonse zazikuluzikulu komanso zopumira), zotha kuzilamulira komanso kuzimiririka. Kutchuka kwa mitundu yodziwika bwino yamkhalidwewu ndi 100,000 000 (mawonekedwe ogwirizana ndi X), mitundu ina ndiyocheperako.

Zomwe zimayambitsa matenda a shuga a phosphate

Ngakhale kutchulidwa kwa ma genetic heterogeneity a chifuwa chachikulu cha phosphate, zomwe zimayambitsa matenda a hypophosphatemia mu mitundu yosiyanasiyana ya matendawa ndi chimodzimodzi - kuphwanya mayankho obwezeretsanso (mafupa) a impso. Izi zimakuthandizani kuti mufanize kuti ndi tubulopathies kapena pathologies a kwamikodzo dongosolo, komabe, zikachitika, thupi lonse makamaka masculoskeletal system limavutika. Kuphatikiza apo, mitundu ina ya matenda am'mimba a phosphate imayendera limodzi ndi kulowetsedwa kwa calcium m'matumbo ndi impso, kukulira kwa urolithiasis, zododometsa zamtundu wa parathyroid. Pali kulumikizana kowoneka bwino pakati pa majini ndi mitundu yamatendawa, yomwe imatipatsa mwayi wopanga gulu lomveka bwino lomwe limaphatikizapo mitundu isanu ya matenda.

Matenda a shuga ogwirizana kwambiri a X - ndiye mtundu uliwonse wamatendawa, chifukwa cha kusintha kwa mtundu wa PHEX. Imakhala ndi puloteni yotchedwa endopeptidase, yomwe imayang'anira zochitika za impion ndi impso yaying'ono. Chifukwa cha kufooka kwa chibadwa, enzyme yolandirayo siyitha kugwira ntchito zake, chifukwa chake, kuyendetsa mwachangu kwa phosphate ion kudzera mu membrane wa cell mu ziwalo zapamwambako kumachepetsedwa kwambiri. Izi zimapangitsa kuwonjezeka kwa kutayika kwa phosphate ion mu mkodzo komanso kuvuta kwa mayamwidwe am'mimba, chifukwa cha chomwe hypophosphatemia imayamba m'magazi, ndipo kusintha kwamtundu wamtunduwu kumachitika chifukwa cha kuchepa kwa zinthu zamafuta.

Shuga wolumikizidwa wolumikizidwa X - mosiyana ndi mtundu wam'mbuyomu, umakhudza amuna okha, pomwe azimayi amatha kungokhala ngati amtundu wa genetic. Zomwe zimayambitsa matendawa ndi kusinthika kwa jini la CLCN5, lomwe limatsekereza njira ya protein ya chlorine ion. Chifukwa cha kufooka kwamtundu, kayendedwe ka ma ion onse (kuphatikiza ma phosphates) kudutsa ma membrane a maselo a nephron epithelial amakwiya, chifukwa chake matenda a shuga a phosphate amakula.

Autosomal Dominant Phosphateabetes - mawonekedwe a matenda oyambitsidwa ndi kusintha kwa mtundu wa FGF23 womwe uli pa 12 chromosome. Zomwe zimapangidwa ndikufotokozera ndi puloteni yomwe imatchedwa molakwika ya kukula kwa fibroblast-23, ngakhale imasungidwa kwambiri ndi osteoblasts ndikuthandizira kuchulukitsidwa kwa phosphate ion mu mkodzo. Matenda a shuga a Phosphate amapanga masinthidwe a FGF23, chifukwa pomwe mapuloteni omwe amapanga amakhala osagwirizana ndi zochita zama protein, chifukwa chomwe amadziunjikira, motero, zotsatira zake zimakulirakulira ndi hypophosphatemia. Matenda amtunduwu amaonedwa ngati mtundu wa shuga wa phosphate.

Autosomal recessive phosphateabetes Kodi ndi mtundu wachilendo wa matenda omwe amayamba chifukwa cha masinthidwe amtundu wa DMP1 omwe ali pa chromosome yachinayi. Jini imapanga acidic matrix dentine phosphoprotein, makamaka yopangidwa mu dentin ndi minofu ya mafupa, komwe imayendetsa chitukuko chawo. Matenda a pathogenesis a matenda am'mimba a phosphate mu mtundu wamtunduwu sanaphunziridwe bwino.

Autosomal recessive phosphate shuga ndi hypercalciuria - komanso zosowa zina zamatendawa, zomwe zimayambitsidwa ndi kusintha kwa majini a SLC34A3 omwe ali pa 9 chromosome. Amatseka mndandanda wofanana ndi njira yolumikizira sodium ya impso mu impso, ndipo ali ndi vuto mu kapangidwe kake, amatsogolera kuchuluka kwa calcium ndi phosphorous mkodzo ndi kutsika kwa munthawi yomweyo kwa plasma.

Palinso mitundu ya matenda a shuga a phosphate, limodzi ndi hyperparathyroidism, urolithiasis ndi zovuta zina. Mitundu ina yamatendawa imalumikizidwa ndi majini monga ENPP1, SLC34A1 ndi ena. Kafukufuku wazonse zomwe zimayambitsa matenda a shuga a phosphate adakali akupitilizabe.

Zizindikiro za Phosphate shuga

Kuwonetsedwa kwa matenda am'mimba a phosphate chifukwa cha chibadwa cha matendawa matendawa amadziwika ndi kuopsa konsekonse - kuyambira pafupifupi njira ya asymptomatic mpaka zovuta zosadziwika. Zochitika zina za matenda a matenda (mwachitsanzo, chifukwa cha kusintha kwa mtundu wa FGF23) zimatha kuwonetsedwa kokha ndi hypophosphatemia komanso kuwonjezeka kwa phosphorous mumkodzo, pomwe palibe zizindikiro zamankhwala. Komabe, nthawi zambiri, matenda ashuga a phosphate amatsogolera ku chithunzi cha ma ricores ndipo amakula kwambiri ali mwana - zaka 1-2, mwana atayamba kuyenda.

Kuchulukitsa kwa minofu kuyambira paubwana kumatha kukhala chimodzi mwazomwe zikuwonetsa matenda ashuga a phosphate, koma sawunikidwa nthawi zonse. Nthawi zambiri, kukula kwa matendawa kumayamba ndikusintha kwamiyendo kwa O, komwe kumayambitsa miyendo. Ndi kupitilirabe kwa matenda a shuga a phosphate, zizindikiro zina zamankhwala zokhala m'matumbo zimatha - kukula kwakubwezeretsa m'mbuyo komanso kukula kwa thupi, kusokonekera kwa dzino (makamaka ndi mawonekedwe a matendawa omwe amalumikizana ndi matenda). Matenda achilengedwe, mawonekedwe a "rosary" a rickets, makulidwe amtundu wa mafupa a miyendo ndiwofatsa. Komanso, ndi matenda am'mimba a phosphate, kupweteka kumbuyo (kawirikawiri kwamunthu wamanjenje) ndi mafupa amatha kuyang'aniridwa, nthawi zina, chifukwa cha ululu m'miyendo, mwana amataya mwayi woyenda. Zovuta za chitukuko cha luntha mu matendawa, monga lamulo, sizikudziwika.

Kuzindikira matenda ashuga a phosphate

Njira imodzi yoyambira yodziwira matenda a chifuwa chachikulu ndi kuwunika kwa mwana wodwala komanso kafukufuku wokhudzana ndi momwe matendawa amagwiritsidwira ntchito mwachindunji ndi vitamini D. Monga lamulo, ndi matenda awa pamakhala chithunzi cha matendawa omwe amatsutsa kugwiritsidwa ntchito kwa mankhwala achilengedwe a vitamini (mafuta a nsomba, yankho la mafuta) . Kuti mumve kutsimikizika kolondola kwa matenda a shuga a phosphate pogwiritsa ntchito njira zamaphunziro amwazi ndi mkodzo, maphunziro a x-ray, kusanthula kwa ma genetic. Kuwonetsedwa kosalekeza kwa matendawa ndi hypophosphatemia kapena kuchepa kwa phosphate ions m'magazi am'magazi, omwe amatsimikiza ngati gawo la kuwunika kwa biochemical. Nthawi yomweyo, mulingo wa calcium ungakhale wabwinobwino kapenanso kuwonjezeka, komabe mitundu ina ya matenda a shuga a phosphate (chifukwa cha kusintha kwa mtundu wa SLC34A3) imadziwikanso ndi hypocalcemia. Komanso, ndi matenda am'mimba a phosphate, kuwonjezeka kwa phosphatase ya alkal ndipo nthawi zina kuwonjezeka kwa mahomoni a parathyroid kumatha kuchitika. Kuyeza mkodzo wa biochemical kumavumbula kuchuluka kwakulu kwambiri kwa phosphorous (hyperphosphaturia) ndipo, nthawi zina, hypercalciuria.

Kafukufuku wamatsenga wa matenda am'mimba a phosphate amatsimikizira mawonekedwe apamwamba a rickets - kusinthika kwa mafupa a miyendo, mawondo ndi chiuno, kupezeka kwa mafupa (nthawi zina, mafupa am'mbuyo amatha kuchitika) ndi mafupa a mafupa. Kapangidwe ka mafupa kanasinthidwa - gawo la cortical limakhuthala, mawonekedwe a trabecular amakhala coarser, diaphysis imakulitsidwa. Nthawi zambiri, m'badwo wa x-ray wokhala ndi matenda am'mimba a phosphate amakhala kumbuyo kwenikweni, zomwe zimawonetsa kuchepa kwa mafupa. Mitundu yamakono imakulolani kuti mupeze pafupifupi mitundu yonse yamatendawa, monga lamulo, njira yotsatirira mwachindunji majini omwe amagwirizana ndi matenda amagwiritsidwa ntchito. Nthawi zina, mbiri yakale ya wodwala imatha kuwonetsa mtundu wa matenda a shuga a phosphate.

Chithandizo cha Matendawa a Phosphate

Matenda a shuga a Phosphate amathandizidwa ndikuphatikizidwa ndi vitamini mankhwala, mafupa komanso nthawi zina opaleshoni. Ngakhale dzina lina la matenda amtunduwu (Vitamini D osagwirizana ndi mavitamini), vitaminiyu amagwiritsidwa ntchito mosamala pochiza vutoli, koma milingo iyenera kuchuluka. Kuphatikiza apo, odwala matenda a shuga a phosphate amawayikira calcium ndi phosphorous, mavitamini A, E ndi gulu B. Ndikofunikira kuti mankhwalawa azikhala ndi mavitamini osungunuka a mafuta (makamaka D ndi A) ayenera kuchitika pang'onopang'ono moyang'aniridwa ndi adokotala komanso mosamala mosamala ma mankhwalawa kuti mupewe zovuta zoyipa komanso zovuta. Kuwona momwe mankhwalawo amagwiritsidwira ntchito ndi kulondola kwa mankhwalawo. Mankhwalawa amachitika pafupipafupi. Mwa mitundu yayikulu ya matenda a shuga a phosphate, kugwiritsa ntchito vitamini D kungakhale kamoyo.

Pozindikira matendawa matenda ake, chithandizo chake chimaphatikizapo kupewetsa matenda a mafupa mwa njira zamavuto zomwe zimavomerezedwa - kuvala bandeji la msana. Pozindikira pambuyo pake matenda a phosphate a shuga omwe ali ndi vuto lalikulu la chifupa, kuwongolera kungasonyeze. Mitundu ya asymptomatic yamatenda, yomwe imangowonetsedwa ndi hypophosphatemia ndi hyperphosphaturia, malinga ndi akatswiri ambiri, safunikira chithandizo champhamvu. Komabe, kuwunikira mosamala mkhalidwe wa mafupa, minofu, ndi impso (kupewa urolithiasis) kumafunika, komwe kumachitika potsatira mayeso azachipatala pafupipafupi ndi endocrinologist.

Kuneneratu komanso kupewa matenda ashuga a phosphate

Kukula kwa matenda a shuga a phosphate kumatha kukhala kosiyanasiyana ndipo kumadalira zinthu zambiri - mtundu wa matenda, kuuma kwa zizindikiro, msinkhu wodziwira matenda komanso chiyambi cha chithandizo cholondola. Nthawi zambiri, dongosololi limakhala labwino, koma kufunika kwa kugwiritsa ntchito vitamini D, calcium ndi phosphorous kumatha. Kuchepa kwa mafupa chifukwa chozindikira mochedwa kapena kuchizira matenda osokoneza bongo a phosphate kumatha kusokoneza moyo wa wodwalayo. Kupewera kwa chibadwa chathuchi kumatheka pokhapokha pakupatsidwa upangiri wa zamankhwala ndi maubwino a makolo musanakhale ndi mwana, chifukwa njira zina zodziwitsira matenda a khansa zapezeka kale.

Zimayambitsa komanso mitundu ya matenda a shuga a phosphate

Kufotokozera koyamba matendawa kumawonekera m'zaka za zana la 20. Wodwalayo adalembetsedwa ndi mitundu yodziwika kwambiri ya hypophosphatemic rickets ndipo gawo la chibadwidwe chake pakupezeka kwake linatsimikiziridwa. Pambuyo pake, mitundu ina ya matenda a shuga a phosphate idazindikiridwanso, yokhala ndi mawonekedwe wamba ndizomwe zimayambitsa, mtundu wa cholowa ndi mawonekedwe a maphunziro. Pansipa timakhala pa zazikulu.

X-yolumikizira hypophosphatemic rickets. Ichi ndi chimodzi mwazofooka kwambiri ngati matenda, pafupipafupi ndi 1: 20,000 ya ana. Choyambitsa matendawa chimawonedwa kuti ndi kusintha kwa mtundu wa PHEX womwe umalemba zochitika za endopeptidase enzyme yomwe imayambitsa kuyambitsa ndikuwonongeka kwa mahomoni angapo a peptide. Mwakutero, kuperewera kwa mapuloteni kumachitika, kumanyamula ma phosphorous m'matumbo a nephron (mawonekedwe a impso) ndi matumbo, zomwe zimayambitsa kutayika kwa phosphorous ion mu mkodzo ndi kulowetsedwa kwam'mimba m'mimba. Chifukwa chake, phosphorous-calcium metabolism imasokonekera mthupi, ndipo zizindikiro zingapo zam'magazi zomwe zimagwirizanitsidwa ndi izi zimachitika. Njira ya matendawa imakulitsidwa ndikuphwanya vitamini D kagayidwe mu hepatocytes (ma cell a chiwindi) komanso kubisala kwambiri kwa zotupa za parathyroid ndi mahomoni a parathyroid.
Autosomal kwambiri hypophosphatemic rickets. Matenda amtunduwu amakhala ocheperako poyerekeza ndi am'mbuyomu ndipo sakhala ndi koopsa. Amagwirizananso ndi kusintha kwa mtundu wa FGF-23, karyotyped pa chromosome 12. Mtunduwu ndi zinthu zomwe umazungulira zomwe zimapangidwa ndi ma osteocytes (maselo amafupa) kuti zilepheretse aimpso reabsorption (kutulutsidwanso mkodzo) wa phosphates. Ndi kuwonjezeka kwa ntchito yake m'magazi, hypophosphatemia imawonedwa.
Autosomal recessive hypophosphatemic rickets. Kusinthasintha kwa shuga kwa phosphate kumachitika chifukwa cha kusintha kwa mtundu wa DMP1, womwe umayambitsa kapangidwe ka mapuloteni enaake a mafupa omwe amathandizira pakuwonjezereka kwa kuchuluka kwa mafupa osagwirizana (ma cell amafupa). Zimawonjezeranso kuchepa kwa phosphorous mu mkodzo mwa nthawi yayitali ya parathyroid hormone ndi calcitriol.
Herederal hypophosphatemic rickets ndi hypercalciuria. Uwu ndi njira yachilendo kwambiri chifukwa cha kusintha kwa mtundu wa SLC34A3, womwe umakhazikitsa ntchito ya sodium phosphate cotransporters, yomwe imapereka transmembrane kayendedwe ka zinthu mu renal tubules ndi phosphate homeostasis. Amadziwika ndi kuwonongeka kwa phosphorous ndi calcium mkodzo, kuwonjezeka kwa ntchito ya calcitriol ndi kukula kwa rickets.

Maphunziro a matenda a shuga a phosphate ndi polymorphic. Matendawa nthawi zambiri amayambira kuubwana, koma amatha kuwonekera pambuyo pake - wazaka 7-9. Komanso, kuwopsa kwa chizindikiro cha pathological kungakhale kosiyana. Nthawi zina, matendawa amakhala ndi njira ya asymptomatic ndipo amawonetsedwa ndi kusintha kwakukuru mu phosphorous-calcium metabolism. Komabe, pafupipafupi kwambiri ma hypophosphatemic ali ndi chithunzi chautundu:

kubwezeretsa kwakula kwakuthupi ndi kukula kwamisamba
mafupa am'mimba (kulimba kwa varus yokhala m'munsi, "ma" ricards "pamapiko, kuthinitsa kwa mafupa amkati amkati, kuwonongeka kwa chigaza),
Kusintha kwa zovala za mwana (wofanana ndi bakha)
kuphwanya mapangidwe a mano,
matenda amisala,
kupweteka kwa mafupa, etc.

Minofu hypotension, yodziwika bwino wama ricores, nthawi zambiri sapezeka m'matenda a shuga a phosphate.

Kukula kwanzeru mu matendawa sikukuvutikira.

Zizindikiro

Kuzindikira matenda ashuga a phosphate mu ana kumakhazikitsidwa ndi chithunzi chamankhwala ambiri, deta yochokera pakuwunika ndi kuwunika. Kuzindikira kumatsimikiziridwa ndi zotsatira za kafukufuku wa labotale ndi zida:

kusintha kwa mayeso a magazi (hypophosphatemia, kuchuluka kwa phosphatase ya alkaline, kuchuluka kwachulukidwe kapena kukwezeka kwa parathyroid mahomoni ndi calcitonin) ndi mkodzo (hyperphosphaturia, kuchepa kwa phosphate reabsorption mu renal tubules, kuchulukitsa calcium calcium kokha ndi hypophosphatemic rickets yokhala ndi calcuria),
Deta ya X-ray (zizindikiro za kuchepa kwamatenda am'mimba, kufooka kwa mafupa, kusintha kwa kapangidwe ka mafupa, osteomalacia).

Nthawi zina kumayambiriro kwa matendawa, odwala otere amapezeka ndi ma ricores ndipo mankhwala amamuika ndi vitamini D, chithandizo chotere sichimapereka zotsatira ndipo zimapereka chifukwa chokayikira matenda a phosphate mwa mwana. Ngati ndi kotheka, muzochitika zotere, kafukufuku wa ma genule atha kupatsidwa kuti azindikire zolakwika zamtundu.

Kuphatikiza kwa hypophosphatemia ndi miyendo ya miyendo imawonedwanso m'njira zina zamomwe zimayambitsa matenda osiyanasiyana:

matenda a impso (a impso tubular acidosis, matenda a impso) ndi chiwindi (matenda enaake),
endocrine matenda (Hyperfunction of the parathyroid glands),
malabsorption mu zilonda zam'mimba, celiac enteropathy,
alimentary (chakudya) kuchepa kwa vitamini D ndi phosphorous,
kumwa mankhwala ena.

Chithandizo chokwanira cha hypophosphatemic rickets ziyenera kuyamba magawo oyambawa. Choyamba, cholinga chake ndikukonza mavuto a metabolic komanso kupewa kufooka kwa mafupa. Ikaperekedwa, zochita za njirayi komanso kulolera kwa mankhwalawo zimawaganiziridwa.

Maziko othandizira amatha kukhala ndi chithandizo cha nthawi yayitali okhala ndi mavitamini D. Amawerengedwa kuti:

yokhala ndi michere yolimba m'mafupa,
kutayika kwa phosphorous mu mkodzo,
kuchuluka kwa zamchere phosphatase m'magazi,
pa gawo lokonzekera opaleshoni kuti akonze ziwopsezo za mafupa.

Mlingo woyamba wa vitamini D ndi 10,000-20000 IU patsiku. Kuwonjezeranso kwawo kumachitika mothandizidwa ndi zizindikiro za phosphorous-calcium metabolism m'magazi. Mlingo wambiri watsiku ndi tsiku umatha kukhala wokwera kwambiri ndipo nthawi zina umafika ku 250,000-300,000 IU.

Pamaso pa tsankho la vitamini D, komanso hypercalciuria yayikulu, kuikidwa kwa mankhwalawa kumawonedwa ngati kosayenera.

Kuphatikiza pa vitamini D, odwala oterewa akulimbikitsidwa kutenga:

phosphorous ndi calcium kukonzekera,
Kusakaniza kwa citrate (mkati mwa miyezi 6 kuti athandize kuyamwa kwa zinthu izi),
kukula kwamafuta.

Munthawi yayitali kwambiri, ophunzirawo amalangizidwa kuti apumule, atakwanitsa kuchotsedwa - kutikita minofu, kuchitira zolimbitsa thupi.

Momwe mungagwiritsire ntchito bwino njira zolimbikira:

thanzi,
mathamangitsidwe a kukula,
matenda a phosphorous kagayidwe m'thupi,
zabwino zamagetsi mphamvu (kukonzanso fupa labwinobwino).

Pamaso pa kutchulidwa kufooka kwa mafupa motsutsana ndi maziko a kukakamira kwachipatala ndi ma labotale, kukonza kwawo kwa opaleshoni kumachitika. Njira zotsatirazi zitha kugwiritsidwa ntchito pa izi:

osteotomy (disgment) yamafupa aatali a tubular pokonza mbali ya manja,
kufooka kwa miyendo ndi zosokoneza za Ilizarov komanso zida zopondera.

Ntchito zoterezi zimayenera kuchitika pokhapokha ngati chithandizire nthawi yayitali komanso kuunika bwino.

Dokotala uti kuti mulumikizane

Ngati phosphate ya shuga ikukayikiridwa, ndikofunikira kukaonana ndi dokotala yemwe, pambuyo poyesedwa koyambirira, adzatumiza mwana kuti akambirane ndi endocrinologist, orthopedist, ndi nephrologist. Mankhwalawa amaphatikizapo masseur, physiotherapist, katswiri wochita masewera olimbitsa thupi komanso achire. Ngati ndi kotheka, chithandizo chimachitidwa ndi dokotala wa amisala.