Diagnostyka genetyczna u chorych z zespołem Liddle’a Artykuł przeglądowy

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Angelika Długosz
Jarosław Góra
Ewelina Zakościelna
Grzegorz Placha

Abstrakt

Zespół Liddle’a to rzadka, monogenowa postać nadciśnienia tętniczego o autosomalnym, dominującym typie dziedziczenia. Wiąże się ona z mutacjami w genach kodujących podjednostki β i γ nabłonkowego kanału sodowego (ENaC, Epithelial Na+ Channel). Mutacje te skutkują głównie utratą wysoko konserwowanego motywu PY będącego miejscem przyczepu ligazy E3 ubikwityny, która w prawidłowych warunkach usuwa kanał sodowy z powierzchni komórki. Nadmiar lub większa aktywność kanałów ENaC w błonie komórkowej powodują zwiększone wchłanianie sodu, będące bezpośrednią przyczyną nadciśnienia, hipokaliemii i zasadowicy metabolicznej. W prezentowanej pracy omówiono diagnostykę genetyczną i kliniczną zespołu Liddle’a.

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Długosz , A., Góra , J., Zakościelna , E., & Placha , G. (2017). Diagnostyka genetyczna u chorych z zespołem Liddle’a . Kardiologia W Praktyce, 10(4), 27-32. Pobrano z https://journalsmededu.pl/index.php/kwp/article/view/1269
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Artykuły

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