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Zespół Alporta

Zespół Alporta

Zespół Alporta jest to wrodzona, uwarunkowana genetycznie choroba nerek. Może być dziedziczona w sposób autosomalny recesywny lub dominujący związany z płcią (chromosomem X), co powoduje że kobiety mogą chorować bezobjawowo, a mężczyźni zapadają na nią częściej i w silniejszej postaci.

Za zespół Alporta odpowiada mutacja w genie kodującym kolagen związany z pracą i budową kłębuszków nerkowych, które zostają zniszczone.

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Inne nazwy choroby: ang. Alport’s Syndrome, ZE

Zespół Alporta – objawy

Spis treści

krwinkomocz lub białkomocz
krwinkomocz makroskopowy szczególnie powiązany z infekcjami układu oddechowego
narastająca obustronna głuchota
rzadziej obustronne zmiany oczne
anomalie błony podstawnej kłębuszków nerkowych (GBM)

Diagnostyka Zespołu Alporta:

wyżej wymienione objawy kliniczne
biopsja nerki
badanie przeciwciał anty-GBM – niejednoznaczne
badanie PCR mutacji genowej – ostateczne potwierdzenie

Chętnie doradzimy

Jeśli chcą Państwo uzyskać więcej informacji na temat samego badania lub mają inne pytania, zapraszamy do kontaktu z nami:

Telefonicznie

Pod bezpłatnym numerem: 800 007 771 lub 32 445 34 36

E-mailowo

pod adresem e-mail: biuro@testdna.pl (od poniedziałku do piątku 8.00 do 17.00).

Zapraszamy także do zadawania pytań na czacie.

Spis treści

Czas ma znaczenie!

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