Phenylketonuria - chii icho uye kuti urarame sei nayo

Ichi chirwere chinobatanidzwa nekuputsa kweamino acid metabolism. Kunyanya, phenylalanine. Somugumisiro wekushungurudzika kwekuita kwekutendeuka kweiamino acid kune imwe (tyrosine), nemhaka yekushayikwa kweyero enzyme inoda, iyo nemishonga yayo inotyisa (phenylketones) inowedzera mumuviri. Vanove nemigumisiro yakaipa, zvikurukuru pamutambo wenheyo. Zvinyorwa zvakashandurwa kubva muchiLatin - "kuvapo kwe phenylketones mumuguta" - ndizvo zvinoreva "phenylketonuria". Chinyiko chirwere ichi chemagetsi, zvino chave chakajeka, uye chikonzero chekugadzirisa dambudziko iri muvanoshaya nhaka. Inoparadzirwa ne autosomal recessive type.

Izvozvo zvirwere zvinoratidzei?

Kana munhu ane chiremera mujeni rinokonzerwa nehuwandu hweyero inoda, phenylketonuria inosimuka. Izvi zvinorevei, takazvifungidzira. Ndeipi nguva inorapwa inoitwa? Chirwere hachiratidzi kunze kunze kwekuberekwa, vana vanotarisa zvakajeka, vanozvarwa panguva uye vanowanzogadzirwa. Zvisinei, gare gare (mumwedzi 2-6) pane zviratidzo:

• Kudzokera kwekugadzirwa kwepanyama uye kwepfungwa;
• Kuwedzera kutuka nekuvapo kwemhando ye "mouse" kunhuwira kubva kumwana;
• Kunyangadza, kuchema;
• Kutsemuka uye kunyengera;
• Kushungurudzika
• Inogona kurutsa.

Uyezve, kuonekwa kwezvipembenene zveganda (dermatitis, eczema) kunoratidza phenylketonuria. Izvozvi uye kuti zvinotarisa sei murwere zvakajeka, asi zviratidzo izvi hazvisi pachena - zvirwere zvakawanda zvinogona kuva nezviratidzo zvakafanana.

Nzira yekuziva sei chirwere ichi

Kana chiremba achifungidzira chirwere ichi pamusana pezviratidzo zvemakiriniki, achagadza kusarudza kwehuwandu hwe phenylalanine muropa.

Uyewo, sangano rezvechiremba rinotora urini kuti riongororwe, phenylketonuria inogona kuongororwa kubva mumazuva 10-12 ehupenyu hwomwana. Iye zvino muzvipatara zvekuberekwa kwemazuva 3-4 kubva pakuberekwa kwecheche anopedza kuongororwa kwekuongorora kuongorora zvirwere zvakasiyana-siyana zvemagetsi. Muedzo wechirwere ichi unowanikwa munhamba yavo. Chirwere che phenylketonuria chinowanikwa kakawanda, mumwe mwana we8000 anoberekwa nechinetso ichi. Nzira dzeGenetic dzekuongorora hutachiona dziripo zvakare: kuonekwa kwekuchinja kwemugeni.

Nzira yekurapa murwere

Sezvatinonzwisisa, chirwere chakadai se phenylketonuria ndechokuti zvirwere zvegenetic . Izvi zvinorevei? Kune nzira mbiri dzekubata vanhu vane utera hwakadaro hwakasara hwemakemikari: kuunza iyo yekupedzisira mumuviri Nokuda kwekudzivisa kubva pamishonga yezvokudya zvinoda enzyme yakapiwa yekudya, kufanana, mukati-kati metabolism. Muchiitiko chechirwere ichi, sarudzo yekupedzisira inoshandiswa. Varwere vanonyatsopedza kudya kwe phenylalanine nechikafu. Ita izvi nekukurumidza sezvinobvira kuitira kuti udzivirire kudhakwa kusingadzorwi kweuropi. Zvokudya zvinoshandisa mapuroteni anovhenganiswa zvakasiyana pasina phenylalanine, kuti iite nokuda kwekushayikwa kwemapuroteni.

Nzira dzokurapa pamwe nenzira yakasiyana-siyana dziri kuve dzichigadzirwa - nekuisa shanduko yemichero ye enzyme. Imazuva ano maitiro ehutano ehutachiona akaedzwa zvakare: kuiswa kwejeni inodzora kubudiswa kwemhepo inoshayikwa.