Yintoni Alport syndrome?

Alport syndrome sisifo ilifa, nto leyo luphawulwa ukuncitshiswa ezilandelelanayo ngqo umsebenzi kwezintso kunye nokuphazamiseka ukuva okanye umbono. Okwangoku, kwilizwe lethu olu hlobo yokugula phakathi kwabantwana (ikakhulu) a elinokuvela le-17: 100 000.

Izizathu

Ngokutsho kweengcali, Alport syndrome sibangelwa ngenxa ezingaqhelekanga kwi sofuzo, nto leyo ibekwe kwingalo elide X chromosome kummandla ekuthiwa-21-22q. Ukongeza, waphula umthetho ebizwa ngokuba isakhiwo elipheleleyo uhlobo collagen 4 ubuye ke unobangela sifo. Phantsi collagen iqondwa xa inzululwazi iproteni ololo licandelo ngqo esiqwini nokuqina obonelela luthambe kunye nokuqhubekeka.

iimpawu

Alport syndrome idla kuqala uzenza waziva ngayo abantwana abaminyaka ukusuka kwiminyaka emihlanu ukuya kwelishumi, kwaye wabonakaliswa ngohlobo hematuria (igazi umchamo ukufumana). Amaninzi, le uxilongo ifumaneka ngequbuliso, oko kukuthi, kumaziko okubhalela iimviwo elilandelayo yincutshe. Ngaphezu koko, Alport syndrome kubonakala njenge ebizwa ngokuba yi-stigmas dizembriogeneza. Le ezinxaxhileyo ezincinane kakhulu loo nto ukudlala indima ekhethekileyo ekusebenzeni iinkqubo eziphambili umzimba. Oogqirha bathi epikant (anda encinane kwikona engaphakathi iliso), izulu phezulu, a deformation kancinane zombini iindlebe kunye nezinye iimpawu. Aluguquguquki ubuthulu nalo ukuqinisekisa umqondiso esi sifo, kunye nelahleko ukuva banesifo rhoqo kakhulu amakhwenkwe. Zonke ezi mpawu zingasentla badla zingabonakaliyo elivisayo, ngoxa ziqatha ukusilela kwezintso uzenza waziva kuphela xa sele umdala.

ekuxilongweni

syndrome Alport kubantwana lidla kwafunyaniswa isekelwe phezu kwale hlobo data sifo kwezinye amalungu entsapho. Umzekelo, ukuba ukuqinisekisa esi sifo ngokwaneleyo afanayo ezintathu iikhrayitheriya ezintlanu adweliswe apha ngezantsi:

• ubuthulu;
• amatyala lokufa izalamane ezingapheliyo ukusilela kwezintso;
• isiqinisekiso hematuria entsatsheni;
• zokugula amehlo;
• ubukho utshintsho ezithile ngexesha kidney biopsy.

unyango

Xa engekho unyango oluthile, oogqirha kufuneka uqale ukwehlisa ukuqhubela phambili ukusilela kwezintso. Nale uphethwe njengoko sifo Alport kaThixo, abantwana umthambo ngqo esalelweyo, ukuba ubeka ukutya okunempilo. Ingqwalasela enkulu ihlawulwe loo nto ibizwa ngokuba yinkqubela-kwimo yesiqhelo nakujoliso olutsha esosulelayo. Sebenzisa kwi unyango cytostatics kunye neziyobisi ezahlukeneyo kwamadlala kukhuthaza ukuphuculwa. Noko ke, amaxesha amaninzi abelwe ukufakelwa kwezintso njengoko impatho engcono. Kufuneka kuqatshelwe ukuba ekufumanekeni haematuria ngaphandle enkulu ilahleko ukuva ngokubanzi kuli- ikhosi kakuhle ngakumbi abantu abane sifo. Kwimeko elolu hlobo ukusilela kwezintso banesifo kunqabile kakhulu.