Limagwirira a ketonuria.

Mwa munthu wathanzi, chakudya, lipids, ndi mapuloteni ena amathandizidwa ndi mpweya wambiri komanso madzi. M'mikhalidwe ina ya pathological, makamaka ndi matenda a shuga, kupanga insulin kumachepa. Mu chiwindi, nkhokwe za glycogen zimachepetsedwa, minofu yambiri yamthupi ili m'malo olimbitsa thupi. Pansi pa izi, njira za oxidation zama protein ndi lipids m'chiwindi zimayendetsedwa, koma kusowa kwa glycogen kumabweretsa kusakwaniritsidwa kwa oxidation ndi kudzikundikira m'magazi a unoididized a lipid ndi protein metabolism - matupi a ketone. Chifukwa cha kuchuluka kwa matupi a ketone m'magazi (ketonemia), pH yamagazi imasunthira mbali ya acid. Matendawa amatchedwa acidosis. Mkodzo wa wodwala wotere umakhala ndi asidi lakuthwa komanso amanunkhira acetone.

Njala, kugwiritsidwa ntchito makamaka kwa mapuloteni komanso zakudya zamafuta, kuphatikiza mafuta m'zakudya kumabweretsa kukula kwa mapangidwe a matupi a ketone ndi kutuluka kwawo mkodzo.

Ali mwana, ketonuria imakhala yodziwika bwino kuposa momwe imakhalira mwa achikulire ndipo ilibe tanthauzo lakuchipatala. Izi ndizothandiza kwa dokotala wa ana "kusanza kwa acetonemic" komwe kumalumikizidwa ndi zolakwika zakudya.

Ketonuria mu nthawi ya postoperative imachitika chifukwa cha kuwonongeka kwa mapuloteni chifukwa cha kuvulala kwa opaleshoni.

Akuluakulu, ketonuria imapezeka m'mitundu yayikulu ya matenda ashuga ndipo imakhala yofunikira kwambiri pakuwunika. Mu ana, imatha kukhala ndi matenda osiyanasiyana, chifukwa cha kuvuta kwa kagayidwe kazakudya. Chifukwa chake, ngakhale zolakwika zazing'ono m'zakudya, makamaka kupezeka kwa matenda owopsa, kusangalala kwamanjenje, kugwira ntchito kwambiri, ndi zina zambiri. kungayambitse ketosis. Ketonuria adakali ana kuonedwa ndi toxicosis, matenda a m'mimba osakhalitsa, kamwazi ndi matenda ena. Mwa makanda, kuchuluka kwamatumbo a mkodzo pafupifupi nthawi zonse kumayamba chifukwa cha kuperewera kwa zakudya m'thupi. Ketonuria, yomwe imadziwika ndi matenda opatsirana - kutentha thupi, chimfine, meningitis ndi kuledzera, ndi chizindikiro chachiwiri, chosazengereza komanso chosafunikira kwenikweni.

Ketonuria wa matenda ashuga amakula chifukwa cha kuchuluka kwa ketogenesis komanso ketolysis. Kuchulukitsa kwa ketogenesis kumapangitsa kuti pakhale kulimbikitsa kwambiri mafuta kuchokera ku minofu ya adipose, kuchepa kwa kupanga kwa oxalacetate mu kayendedwe ka Krebs, ndi kuchepa kwa biosynthesis yamafuta acids. Mu matenda akulu a shuga, limodzi ndi kuwonongeka kwa minyewa ya impso (malo osweka a ma ketoni), kuphwanya kwina kwa ketolysis kumachitika.

Kusowa kwa glucosuria pamaso pa ketonuria sikutanthauza shuga.

Nthawi zambiri, matupi a ketone amapangidwa pang'ono kuchokera ku chomaliza chomanga chakudya komanso lipid metabolism - acetyl-CoA (C₂-bodies) kudzera mu acetoacetyl-CoA ndipo ali pafupi kwambiri.

Mu matenda a shuga, kuphatikizira kwa lipids kumachulukana ndikupanga kuchuluka kwa acetyl CoA (C₂thupi). nthawi yomweyo, chifukwa cha kuphwanya kagayidwe kazakudya, kuchepa kwa mapangidwe a oxalacetate, omwe C₂-Mibulu imaphatikizidwa mumjikelezo wa Krebs ndikuwotcha mpweya ndi madzi. Kuphatikiza apo, chifukwa cha kuchulukana kwa lipid, kusintha kwachilengedwe kwa C kwatsekedwa.₂thupi kukhala mafuta acids. Chifukwa chake, kuchuluka kwakukulu kwa C₂-munthu aliyense, zomwe zimapangitsa kuti pakhale kuchuluka kwa maCoA, ndipo chifukwa chake acetone, acetoacetic ndi beta-hydroxybutyric acid, omwe amuchotsa mkodzo.

Matupi a Ketone

Izi ndi zinthu zapakatikati zowola zomwe zimapangidwa pa chiwindi. Nthawi zambiri, metabolism imawulula matupi a ketone kuti apitirizebe kuwonongeka.

Zosungidwa zama gluu m'thupi zimapezeka m'mafuta amthupi, chifukwa chake ketonuria ndi kusowa kwamphamvu kwa chakudya. Matupi a Ketone ndiwothandiza kwambiri. Mmenemo, ngakhale mafuta acids amatsalira pambuyo pawo. Chifukwa chake, ubongo kapena mtima ukasowa ma phosphoric acid, thupi limatulutsa matupi a ketone mwachangu.

Zifukwa zake ndi ziti

Ketonuria ndiye mkodzo wa matupi a ketone pamwamba pazobwinobwino.

Mu thupi laumunthu labwino, kagayidwe kake kamakhala koyenera. Kodi chingayambitse ketonuria ndi chiyani?

• Kukula kwa mapuloteni ndi mafuta m'zakudya. Chifukwa cha kuchepa kwa chakudya chamagulu m'zakudya, maselo akusowa chakudya. Poyerekeza ndi izi, ketonuria imayamba. Umu ndi momwe thupi limaperewera pakudya.

• Zakudya zamagulu komanso kuzunzidwa chifukwa chanjala kumatha kuyambitsa maonekedwe a ketone m'mikodzo. Zolakwika posankha zakudya zimayambitsa kuthana ndi mafuta mwachangu, pomwe kuchuluka kwa ma enzymes kumawonjezeka. Ketonuria ndi mawonekedwe a acetone m'magazi. Nthawi zambiri, munthu akafa ndi njala kwa masiku opitilira masiku asanu ndi limodzi, zomwe matupi a ketone mthupi la munthu amakula kuposa zabwinobwino.
• Opaleshoni ya opaleshoni.
• Matenda a shuga. Pankhaniyi, ketonuria imawonekera nthawi ndi nthawi. Matupi a Ketone okha si omwe amayambitsa matendawa. Mu shuga mellitus, maphunziro owonjezera a chakudya ndi insulin ndi omwe amapatsidwa.
• Kuthetsa madzi m'thupi. Zimachitika pamene thupi latha kapena lili ndi vuto la shuga.
• Matenda a chiwindi kapena matenda opatsirana opweteka (mwachitsanzo, kamwazi).
• Kukula kwa zotupa m'mimba.
• Zovuta zam'mimba.
• Poizoni ndi mowa kapena mankhwala okhala ndi phosphorous, lead.
• Zowonongeka zamkati wamanjenje, kusangalala kwamanjenje.

Kumbukirani kuti kununkhira kwa acetone mukamapuma kapena pokodza ndi chizindikiro choti muonane ndi dokotala. Ndi chifukwa chosinthira moyo komanso thanzi.

Yang'anani ana

Zachipatala nthawi zambiri zimafunsidwa ngati mwana asanza, fungo la acetone. Kapena fungo loterolo limawonekera mkodzo. Ndipo ngakhale ndi chizindikiro cha ketonuria, sikuti ndi chizindikiro cha matenda oopsa.

Nthawi zambiri, chilichonse chimafotokozedwa ndi dongosolo lopanda mphamvu la metabolic. Zomwe zimapangitsa ketonuria mwa ana ndi momwe zimafunikira mphamvu zambiri. Nthawi zambiri zimachitika:

• zosokoneza m'maganizo
• kulimbitsa thupi kwambiri,
• chakudya chopanda malire
• ozizira

Chowonadi ndi chakuti thupi la mwana lilibe malo ogulitsa glycogen, chifukwa chake, kuthyolako kwamphamvu kwa mafuta kumachitika ndipo zizindikiro za ketonuria zimawonedwa.

Mimba

Kwa miyezi isanu ndi inayi yoyembekezera, amayi nthawi zambiri amayenera kuyesa mkodzo. Izi ndizofunikira kuti musaphonye pang'ono pang'onopang'ono kuchokera pakupendekera kwakanthawi mthupi. Inde, ziwalo zonse zili ndi katundu wambiri. Kodi zikutanthauza chiyani kuti matupi a ketone amapezeka mkodzo?

Nthawi zambiri zinthu zawo zazing'ono ndizomwe zimakhazikika. Kusanthula kosavuta kwambiri kumakhala kupititsa mayeso othamanga. Muyenera kutsitsa mzere woyeserera mkodzo.

Chiyeso choyipa chimatengedwa ngati chabwinobwino panthawi yomwe muli ndi pakati kapena kuchuluka kwa ma ketones ndizochepa. Ngati mtengo woyeserera uchokera pa 15 mpaka 160 mg / dl - izi ndizoyambitsa nkhawa.

Panthawi yapakati, ketonuria ndi chizindikiro choopsa. Imawoneka ndi toxosis woyambirira. Kupweteka kwa thupi, ndipo chifukwa chake mwana wosabadwayo amakhala ndi acetone, kumapangitsa kuti pakhale pakati.

Ngati mayi woyembekezera ali ndi vuto lalikulu lakukhudzana ndi mahomoni, amakhala pachiwopsezo.

Kuwonjezeka kwa ma ketoni mumkodzo wa mwana wakhanda chifukwa cha kusakwanira kudya kapena zolakwika zopatsa thanzi.

Zizindikiro za Ketonuria

Ngati kuchuluka kwa ma ketoni m'thupi kwakula kwambiri, ndiye kuti ketonuria iwonekere:

• kugona kwambiri
• Kununkhira kwa acetone kuchokera mkamwa,
• fungo la mkodzo wa acetone
• kusanthula kukuwonetsa kuchuluka kwa maselo oyera m'magazi,
• kuyezetsa magazi kwa mitundu iwiri kumawonetsa shuga wambiri,

Ngati ketonuria yapangitsa kulumpha m'magazi a acetone, ndiye kuti vuto la acetone limatha kuchitika.

Kuwonjezeka kwakukulu kwa acidity m'maselo kungawononge kwambiri ziwalo zamkati. Pankhaniyi, kudziteteza kumayambitsidwa - kusanza.

Zizindikiro za ketonuria mu ana:

• madandaulo a kupweteka kwam'mimba
• kudandaula mutu
• Mwana watopa, wadwala,
• madandaulo a nseru
• kusanza
• kukweza kutentha mpaka 39 ° C,
• kukana chakudya
• fungo ngati acetone
• kukulitsa chiwindi

Kodi ketonuria ikhoza kupezeka?

Kupenda kwamankhwala okha komwe kumatha kuwona kuchuluka kwa matupi a ketone mthupi. Ma labotale akhazikitsa nthawi yomweyo momwe matupi a ketone amakhalamo.

Mankhwala amakono, ketonuria wapezeka:

• Mayeso a Lange,
• Kuyesedwa kwalamulo
• Zitsanzo Zamalonda,
• zitsanzo zosinthidwa za Rothera,
• mayeso ofulumira

Zoyeseza mwachangu, ndizodziwika, ndizofala kwambiri. Zochita zawo zimachokera pakukhudzana ndi mankhwala, zomwe zotsatira zake zimawoneka nthawi yomweyo. Mmodzi amangofunika kuyika mzere mu mkodzo kapena kuwuponya pa piritsi yoyesera. Pothana ndi zotsatira zabwino, mayesowo amakhala otuwa. Kuwala kwa utoto kumakupatsani mwayi woweruza ndi mtundu wapadera wa momwe matupi a ketone amapitilira.

Kugawidwa Kwa Matenda Padziko Lonse

International Statistical Classization of Diseases and Related Health Mavuto (ICD) ndi buku lowongolera momwe zida zingafaniziridwe padziko lonse lapansi. Ndi chithandizo chake, njira zosiyanasiyana zimaphatikizidwa. Ziwerengero zamatenda zikusonkhanitsidwa ndikusankhidwa. Zaka khumi zilizonse, IBC imawunikiridwa ndi komiti ya World Health Organisation. Pofuna kusiyanitsa ndikuwunika kuchuluka kwathunthu pazotsatira kuchokera pakuwonekera kwa mawerengero, zimasinthidwa kukhala zilembo za alphanumeric. Pantchito yotere, ICD yomwe idakhazikika imagwiritsidwa ntchito. Lero likufanana ndi ICD-10. Ili ndi magulu 22 (magawo).

Malinga ndi dilesi ya ICD, ketonuria ili ndi code R82.4.

Kupewa kwa Ketonuria ndi Zakudya

Pofuna kupewa ketonuria, ndikofunikira:

• idyani pomwe
• khalani ndi moyo wathanzi:

- momwe ndingathere kukhala mu mpweya watsopano,

- zolimbitsa thupi

- Musayambitse matenda osachiritsika.

Mu matenda osachiritsika monga matenda a shuga, dokotala amakambirana mwadongosolo. Nthawi ndi nthawi ndikofunikira kuyesedwa.

Kuyankha bwino kumawonetsa matenda mu thupi. Tchera khutu chizindikiro! Kufunsira mwachangu kuchipatala kumabweza thupi mwachangu. Popatula kuchoka kuzakudya zomwe adokotala adapereka, mutha kufulumira kuchira.

Mfundo za zakudya za ketonuria:

• osamadya zakudya zomwe zili ndi mapuloteni komanso mafuta ambiri,
• kudya pafupipafupi chakudya
• Imwani madzi ochulukirapo ndi njira za sodium (omwe ali ndi matenda ashuga - insulin).

Zakudya zake ziyenera kukhala: ng'ombe yophika ndi kalulu, supu zamasamba osiyanasiyana, nsomba zamafuta ochepa. Mbewu zothandiza zopanda mafuta, masamba ndi zipatso. Ndikulimbikitsidwa kumwa zakumwa zambiri, zakumwa za zipatso, ma compotes.

Musachokere ku menyu:

• nyama yamafuta
• zokometsera zokometsera
• lokoma
• Zipatso za malalanje
• nthochi
• bowa
• chakudya chofulumira.

Yang'anani pa chithandizo

Ketonuria sayenera kuthandizidwa ngati matenda apadera. Ndi zotsatira chabe. Ndikofunikira kupatula zomwe zinayambitsa. Choyamba, pamafunika mayeso okwanira. Kuwona kwazidziwitso ndikukhazikitsa kwa chifukwa cha ketonuria kumatsimikizira chithandizo chokwanira.

Madokotala amapereka malangizo:

• Ngati onenepa kwambiri, muyenera kukonza masiku osala kudya nthawi ndi nthawi.
• Ngati kusanthula kwawonetsa kuwonjezeka kwamatumbo a mkodzo, gulani mayeso kuti mugwiritse ntchito kunyumba.

• Mitsempha ikuyenera kusungidwa kuti iwunikenso osaposa maola anayi musanafike.
• Mwana amatha kuledzera ndi zakumwa za alkaline mphindi zilizonse khumi ndi zisanu m'malo ochepa. Wogwiritsa ntchito makala, Enterosgel amathandizira kuchotsa kugaya chakudya.
• Ndi kusanza komwe kukubwera, ndikofunika kumwa chakumwa chaukadaulo. Imbani ambulansi.

Momwe mungachiritsire ketonuria, pali malangizo pa mankhwala a wowerengeka.

1. Ndi kusanza pafupipafupi, kumwa madzi amchere, zouma zipatso zowonjezera, shuga. Supuni imodzi mu mphindi khumi.
2. Ikani enema kunyumba. Choyamba, madzi ofunda firiji, kenako ofunda, pomwe amathira supuni ya supuni.
3. Imwani: Sungunulani 2 tbsp mu madzi okwanira 1 litre. wokondedwa, thira madzi a mandimu imodzi. Imwani 1 tbsp. mphindi 15 zilizonse.
4. Chinsinsi cha koloko yankho: Sungunulani supuni 1 yamadzi mu 250 ml ya madzi. Imwani 1 tsp. mphindi 10 zilizonse.
5. Tengani zodzikongoletsera za zitsamba zoziziritsa kukhosi.
6. Kuti muchepetse kuthana ndi poizoni m'thupi, idyani pang'ono pang'onopang'ono. Ndikwabwino kudya zokhazokha.

Chithandizo chimatengera machitidwe a thupi. Ziyenera kuyang'aniridwa mosamalitsa ndi adokotala omwe amapezekapo.

76. Cholesterol. Njira zolowera, kugwiritsa ntchito ndi kuchotsera thupi. Serum cholesterol. Cholesterol biosynthesis, magawo ake. Malangizo a kaphatikizidwe.

Cholesterol ndi steroid yokhudza mitundu ya nyama. Amapangidwa m'mankhwala amtundu wa anthu, koma malo ophatikizika kwambiri ndi chiwindi. Mu chiwindi, cholesterol yoposa 50% imapangidwa, m'matumbo ang'ono - 15-20%, cholesterol yonse imapangidwa pakhungu, adrenal cortex, ndi gonads. Pafupifupi 1 g ya cholesterol imapangidwa tsiku lililonse m'thupi, 300-500 mg imayamwa ndi chakudya (mkuyu. 8-65). Cholesterol imagwira ntchito zambiri: ndi gawo la membala onse am'magazi ndipo imakhudza katundu wawo, imagwira ntchito ngati gawo loyambirira pama kapangidwe ka bile acid ndi mahomoni a steroid. Precursors mu metabolic njira ya cholesterol synthesis imasandutsanso ubiquinone, gawo la kupuma kwamatumbo ndi dolichol, yomwe imakhudzidwa ndi kapangidwe ka glycoproteins. Chifukwa cha gulu lake la hydroxyl, cholesterol imatha kupanga ma ester okhala ndi mafuta acids. Etherified cholesterol imakhazikika m'magazi ndipo imasungidwa m'mitundu ingapo yama cell yomwe imagwiritsa ntchito ngati gawo lapansi pakapangidwe kazinthu zina. Cholesterol ndi zigawo zake ndi mamolekyulu a hydrophobic, chifukwa chake amatengedwa ndi magazi kokha ngati gawo la mitundu yosiyanasiyana ya mankhwala. Kusinthana kwa cholesterol ndizovuta kwambiri - pokhapokha pazomwe zimachitika, pafupifupi zotsatira zotsatizana zana ndizofunikira. Pazonse, pafupifupi mapuloteni 300 osiyanasiyana amathandizidwa ndi cholesterol metabolism. Kusokonezeka kwa cholesterol metabolism kumabweretsa imodzi mwazofala kwambiri - atherosulinosis. Kufa chifukwa cha atherosulinosis (myocardial infarction, stroke) kumatsogolera m'chigulu chonse cha anthu omwe amafa. Atherossteosis ndi "matenda a polygenic", i.e. zinthu zambiri zimakhudzidwa ndikukula kwake, zomwe ndizofunikira kwambiri monga cholowa. Kudzikundikira kwa cholesterol m'thupi kumabweretsa kukula kwa matenda ena odziwika - matenda a ndulu.

A. kaphatikizidwe wa cholesterol ndi malamulo ake

Zochita za syntlesterol zimachitika mu cytosol yama cell. Iyi ndi njira imodzi yayitali kwambiri m'thupi la munthu.

Phenylketonuria

Phenylketonuria - cholowa cholowa cha amino acid metabolism chifukwa chosowa ma enzymes a chiwindi omwe amaphatikizidwa ndi metabolism ya phenylalanine kuti tyrosine. Zizindikiro zoyambirira za phenylketonuria ndikusanza, kufooka kapena kuchepa thupi, kununkhira kwa nkhungu kuchokera ku mkodzo ndi khungu, kuchepa kwa psychomotor, Zizindikiro zakuchedwa kwakumapeto zimaphatikizapo oligophrenia, kuchepa kwakula kwa thupi, kupsinjika, kusintha kwa khungu, ndi zina zambiri. kuwunika kotsatira kumaphatikiza kuyesa kwa ma genetic, kutsimikiza kwa magazi phenylalanine ndende, kusanthula kwamkodzo, EEG, ndi MRI yaubongo. Chithandizo cha phenylketonuria ndikutsatira zakudya zapadera.

Zambiri

Phenylketonuria (nthenda ya Felling, phenylpyruvic oligophrenia) imakhala yachilengedwe, yotsimikizika pamtundu wodziwika ndi kuphwanya hydroxylation ya phenylalanine, kudzikundikira kwa amino acid ndi ma metabolites ake pazinthu zama thupi ndi minyewa, yotsatira ndikuwonongeka kwakukulu kwa dongosolo lamanjenje lamkati. Phenylketonuria adafotokozedwa koyamba ndi A. Felling mu 1934; zimachitika kawirikawiri ndi vuto limodzi mwa ana akhanda 10,000. Mu nthawi ya neonatal, phenylketonuria ilibe mawonetseredwe azachipatala, komabe, kudya kwa phenylalanine ndi chakudya kumayambitsa chiwonetsero cha matenda kale theka loyamba la moyo, ndipo pambuyo pake kumabweretsa kudwala kwamphamvu kwa matenda a mwana. Ichi ndichifukwa chake kudziwika kwa phenylketonuria kwa ana akhanda ndi ntchito yofunika kwambiri ya neonatology, ana ndi genetics.

Zoyambitsa Phenylketonuria

Phenylketonuria ndimavuto obwera ndi cholowa cham'tsogolo. Izi zikutanthauza kuti pakukula kwa matenda am'mimba a phenylketonuria, mwana ayenera kulandira cholowa chimodzi kuchokera kwa makolo onse awiri, omwe ndi amtundu wa heterozygous.

Nthawi zambiri, kukula kwa phenylketonuria kumachitika chifukwa cha kusintha kwa majini komwe kumayambitsa enzyme ya phenylalanine-4-hydroxylase yomwe ili pa mkono wautali wa chromosome 12 (locus 12q22-q24.1). Awa ndi otchedwa classical I phenylketonuria, owerengera 98% ya milandu yonse yamatenda. Hyperphenylalaninemia imatha kufika 30 mg% ndipo pamwamba. Ngati sanapatsidwe, mtundu wina wa phenylketonuria umatsatiridwa ndi kugonja kwakamafu.

Kuphatikiza pa mtundu wakale, atypical phenylketonuria imasiyanitsidwa, ikuchitika ndi zomwezi matenda, koma osagwirizana ndi chithandizo cha mankhwala. Izi zikuphatikizapo mtundu wa phenylketonuria II (dehydroterterin reductase akusowa), phenylketonuria mtundu III (tetrahydrobiopterin akusowa) ndi zina, zosowa zina zambiri.

Mwayi woti ubereke mwana wokhala ndi phenylketonuria ukuwonjezeka ndi mabanja apamtima.

Pathogenesis ya phenylketonuria

Mitundu yoyambira ya phenylketonuria imakhazikitsidwa ndi kusakwanira kwa enzyme ya phenylalanine-4-hydroxylase yomwe ikuphatikizidwa pakusintha kwa phenylalanine kukhala tyrosine mu hepatocyte mitochondria. Ndipo, tyrosine yotengera tyramine ndiyomwe imayambira kuphatikizika kwa catecholamines (adrenaline ndi norepinephrine), ndi diiodotyrosine popanga thyroxine. Kuphatikiza apo, mapangidwe a piganin pigment ndi omwe amachitika chifukwa cha phenylalanine metabolism.

Kuchepa kwa mtima kwa phenylalayin-4-hydroxylase enzyme mu phenylketonuria kumayambitsa kuphwanya kwa oxidation ya phenylalanine kuchokera ku chakudya, zomwe zimapangitsa kuti azingika kwambiri ndimagazi (phenylalaninemia) ndi madzi am'magazi amawonongeka kwambiri. Kuchuluka kwa phenylalanine kumathetsedwa ndikuwonjezera kwamikodzo ya metabolites yake - phenylpyruvic acid, phenylmilactic ndi phenylacetic acid.

Kusokonezeka kwa amino acid metabolism kumayendetsedwa ndi kupindika kwa minyewa ya minyewa, kuchepa kwa kupangika kwa ma neurotransmitters (dopamine, serotonin, etc.), zomwe zimayambitsa njira za pathogenetic zamagetsi obwerera m'mbuyo komanso kuchepa kwa mtima kwapang'onopang'ono.

Zizindikiro za phenylketonuria

Makanda obadwa kumene ndi phenylketonuria sakhala ndi matendawa. Childs, chiwonetsero cha phenylketonuria mwa ana amapezeka wazaka 2-6 miyezi. Ndi chiyambi cha kudyetsa, mapuloteni amkaka wa m'mawere kapena m'malo mwake amayamba kulowa m'thupi la mwana, zomwe zimapangitsa kuti pakhale chizindikiro choyamba, chosadziwika - kuwonda, nthawi zina nkhawa komanso kupsa mtima, regurgitation, minofu dystonia, matenda opatsirana. Chizindikiro chimodzi choyambirira cha pathognomonic cha phenylketonuria ndikusanza kosalekeza, komwe nthawi zambiri kumayesedwa molakwika ngati chiwonetsero cha pyloric stenosis.

Pofika theka lachiwiri la chaka, zotsalira za mwana zimayamba kuonekera. Mwanayo amakhala wakhama, wopanda chidwi, osasiya kuzindikira okondedwa, sayesa kukhala pansi ndikuyimirira ndi mapazi ake. Mphamvu yachilendo ya mkodzo ndi thukuta imayambitsa fungo la "mbewa" (fungo la nkhungu) lomwe limachokera m'thupi. Nthawi zambiri pamakhala kubowola kwa khungu, dermatitis, chikanga, scleroderma.

Mu ana omwe ali ndi phenylketonuria omwe salandila chithandizo, microcephaly, prognathia, pambuyo pake (pambuyo pa zaka 1.5), kenaka hypoplasia yapezeka. Kuzengereza pakulankhula kumadziwika, ndipo pofika zaka 3-4 zakuzama oligophrenia (idiocy) komanso kusapezeka konse kwa mawu kumapezeka.

Ana omwe ali ndi phenylketonuria amakhala ndi vuto lokhala ndi vuto lofooka, lomwe nthawi zambiri limakhala ndi vuto la mtima, kusokonekera kwa magazi (thukuta, acrocyanosis, hypotension), ndipo amadwala kudzimbidwa. Makhalidwe a phenotypic a ana omwe ali ndi phenylketonuria amaphatikizapo khungu lowala, maso ndi tsitsi. Mwana yemwe ali ndi phenylketonuria amadziwika ndi gawo linalake la "telala" (miyendo yakumanzere ndi yam'munsi yolumikizana mafupa), kugwedezeka kwa dzanja, kugwedezeka, kulimbitsa thupi, komanso kugwedeza.

Mawonetseredwe azachipatala a mtundu II phenylketonuria amadziwika ndi kuchuluka kwa malingaliro obwezeretsa m'maganizo, kuwonjezereka kwa mkwiyo, kukomoka, spastic tetraparesis, ndi tendon hyperreflexia. Kukula kwa matendawa kungayambitse kuti mwana wamsinkhu wazaka ziwiri mpaka zitatu amwalira.

Pamene phenylketonuri mtundu wachitatu akukhala ndi kuchuluka kwa zizindikiro: microcephaly, oligophrenia, spastic tetraparesis.

Matenda a phenylketonuria

Pakalipano, kuwunika kwa phenylketonuria (komanso galactosemia, kobadwa nako hypothyroidism, adrenogenital syndrome ndi cystic fibrosis) ndi gawo limodzi la pulogalamu yoonera ana akhanda.

Chiyeso chowunikira chikuchitika pakatha masiku 3-5 amoyo wamasiku athunthu ndi masiku 7 amoyo wa mwana asanabadwe mwa kutenga sampuli yamagazi a capillary pafomu yapadera. Ngati hyperphenylalanemia yapezeka, oposa 2.2 mg% a mwana amatumizidwa ku genetics ya ana kuti ayesedwe.

Kutsimikizira kuzindikira kwa phenylketonuria, kuchuluka kwa phenylalanine ndi tyrosine m'magazi kumayang'aniridwa, zochitika za hepatic enzymes (phenylalanine hydroxylase) zimatsimikiziridwa, kuyesa kwa biochemical kwamkodzo (kutsimikiza kwa ketonic acid), metabolites ya catecholamines mu mkodzo, ndi zina zimachitika ndi mauphungu a makolo.

Vuto lakubadwa kwa phenylketonuria limatha kupezeka ngakhale pakakhala nthawi yozindikira matenda oopsa a mwana wosabadwayo (chorionbiopsy, amniocentesis, cordocentesis).

Kuzindikira kosiyanitsa kwa phenylketonuria kumachitika mwachisawawa pakubadwa kwatsopano, matenda a intrauterine, ndi zovuta zina zama metabolic amino acid.

Phenylketonuria Chithandizo

Chofunikira pakuthandizira phenylketonuria ndichakudya chomwe chimaletsa kudya mapuloteni m'thupi. Chithandizo tikulimbikitsidwa kuti chiziyamba pa ndende ya phenylalanine> 6 mg%. Kusakaniza kwapadera kwakonzedwa kwa ana akhanda - Afenilak, Lofenilak, kwa ana opitilira 1 chaka chimodzi - Tetrafen, Phenyl-free, wazaka zopitilira 8 - Maxamum-XP ndi ena.Pansi pa chakudyacho ndi zakudya zama protein ochepa - zipatso, ndiwo zamasamba, zipatso, hydrolysates ndi amino acid . Kukula kwa zakudya kumatha kuchitika patatha zaka 18 pokhudzana ndi kuchuluka kwa kulekerera kwa phenylalanine. Malinga ndi malamulo aku Russia, kuperekera zakudya kwa anthu omwe akudwala phenylketonuria kuyenera kukhala kwaulere.

Odwala amayikidwa kudya mankhwala osakanikirana, mavitamini a gulu B, etc., malinga ndi zikuwonetsa - mankhwala a nootropic, anticonvulsants. Pazovuta za phenylketonuria, kutikita minofu, kugwiritsa ntchito masewera olimbitsa thupi, ndi acupuncture amagwiritsidwa ntchito kwambiri.

Ana omwe akudwala phenylketonuria amayang'aniridwa ndi dokotala wa ana am'deralo ndi neuropsychiatrist, ndipo nthawi zambiri amafunika kuthandizidwa ndi katswiri wazamankhwala. Kuwunikira mosamala mawonekedwe a neuropsychic a ana, kuwunika kuchuluka kwa phenylalanine m'magazi ndi ma electroencephalogram ndizofunikira.

Mitundu ya phenylketonuria yomwe singagwiritsidwe ntchito pakudya imafuna kuikidwa kwa hepatoprotectors, anticonvulsants, mankhwala othandizira ndi levodopa, 5-hydroxytryptophan.

Kuneneratu komanso kupewa phenylketonuria

Kuchita kuwunika kozama kwa phenylketonuria munthawi yamatumbo kumakupatsani mwayi wopangira zakudya zoyambirira komanso kupewa matenda owononga ziwindi, kuwonongeka kwa chiwindi. Ndi kuikidwa koyambirira kwa chakudya chamagulu cha phenylketonuria yakale, zakukula kwa ana ndikwabwino. Ndi chithandizo chakanthawi, matendawo amatukuka m'maganizo.

Kupewa kwa zovuta za phenylketonuria kumakhala kuunika kwatsopano kwa ana akhanda, kupereka mankhwala mwachangu komanso kutsatira kwa nthawi yayitali zakudya.

Kuti muwone kuopsa kwa kubereka kwa mwana yemwe ali ndi phenylketonuria, upangiri wamtundu woyambira uyenera kuperekedwa kwa mabanja omwe ali kale ndi mwana wodwala, ali pachibwenzi cholimbikitsa, komanso ali ndi abale omwe ali ndi matendawa. Amayi omwe ali ndi phenylketonuria omwe akukonzekera kutenga pakati ayenera kutsatira zakudya zofunika asanatenge pathupi komanso panthawi yoyembekezera kuti asatenge kuchuluka kwa phenylalanine ndi metabolites yake komanso kuwonongeka kwa mwana wosabadwa bwino. Chiwopsezo chokhala ndi mwana wokhala ndi phenylketonuria mwa makolo onyamula jini losalongosoka ndi 1: 4.