Uyini Alport syndrome?

Alport syndrome kuyisifo esiwufuzo, esibonakala by ngokulandelana ukunciphisa ngqo umsebenzi so-renal kanye iziyaluyalu kokuzwa noma umbono. Njengamanje, ezweni lakithi lolu hlobo lokugula kwezingane (ikakhulukazi) a akuxhomekile ka mayelana 17: 100 000.

Izizathu eziyinhloko

Ngokusho kochwepheshe, Alport syndrome kubangelwa ngenxa kwezinso e isakhi sofuzo, esemgwaqweni ingalo eside we-X chromosome kulokho okubizwa ngokuthi indawo 21-22q. Ngaphezu kwalokho, ukwephulwa okuthiwa isakhiwo ebalulekile ye-collagen uhlobo 4 futhi imbangela yalesi sifo. Ngaphansi collagen siqondwa isayensi iprotheni enjalo okuyinto isakhi oqondile sezicubu zezinzwa esihlinzeka kuyaqina kanye phambili.

izimpawu

Alport syndrome ngokuvamile kuqala izenze wazizwa ezinganeni ezineminyaka esuka eminyakeni emihlanu kuya kweyishumi, futhi kubonakala ngesimo hematuria (igazi umchamo ukuthola). Ngokuvamile, lokhu uphethwe kutholakala nomaphi, okungukuthi, e-luhlolo elilandelayo nguchwepheshe. Ngaphezu kwalokho, Alport syndrome kuzibonakalisa njengoba okuthiwa dizembriogeneza stigmas. Lena ngeziphambeko ziqhathaniswa ukuthi musa ukudlala indima ekhethekile ukusebenza izinhlelo eyinhloko emzimbeni. Odokotela bathi epikant (crease elincane ekhoneni engaphakathi iso), isibhakabhaka esiphakeme, elinye ukusonteka kancane ngayo zombili izindlebe kanye nezinye izimpawu. Ngokuvumelana ubuthulu futhi uphawu eliqinisekile lesi sifo, futhi ubuthulu sitholakale esiningi abafana. Zonke izimpawu ngenhla ngokuvamile lingaveli usakhula, kuyilapho ezivamile ezingamahlalakhona ukwehluleka kwezinso izenze wazizwa ngesikhathi ikhula iba abantu abadala kuphela.

ekuxilongweni

syndrome Alport ezinganeni ngokuvamile kutholakala ukuthi uphethwe yini esekelwe khona lolu hlobo ledatha isifo kwamanye amalungu omndeni. Ngokwesibonelo, ukuqinisekisa sifo ngokwanele afanayo ezintathu nenqubo ezinhlanu ngezansi:

• ukulahlekelwa kukuzwa;
• Ezimweni lokufa ezingamahlalakhona kwezinso ukwehluleka izihlobo;
• isiqinisekiso hematuria emkhayeni;
• iso zokugula;
• khona izinguquko ezithile ngesikhathi izinso biopsy.

ukwelashwa

In the ukungabikho oluthile lokwelapha, odokotela bethola okokuqala ukuthi kudingeka ukubambezela ukuqhubeka nokwehluleka ukusebenza kwezinso. Nale uphethwe isifo Alport, izingane kukhona umsebenzi nhlobo, ke sinquma ukudla okunempilo. ukunakwa Omkhulu ikhokhelwa nokuvuselelwa lokho okubizwa ngomlobokazi foci ezithathelwanayo. Sebenzisa ekwelapheni cytostatics nezidakamizwa ahlukahlukene hormone ikhuthaza ngcono. Nokho, ngokuvamile inikezwa ukufakelwa izinso njengoba impatho ekhethekile. Kumele kuqashelwe ukuthi le ukuthola haematuria ngaphandle eningi ubuthulu ngokuvamile Kuthi Yiqiniso kahle we Izibikezelo isifo. Esimweni yalolu hlobo ukuhluleka kwezinso sitholakale kakhulu kuyaqabukela.