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Bartter vs Gitelman syndrome

1,747 ビュー· 01/17/24
samer kareem
samer kareem
6 加入者
6

Bartter syndrome has traditionally been classified into three main clinical variants, as follows: Neonatal (or antenatal) Bartter syndrome Classic Bartter syndrome Gitelman syndrome Advances in molecular diagnostics have revealed that Bartter syndrome results from mutations in numerous genes that affect the function of ion channels and transporters that normally mediate transepithelial salt reabsorption in the distal nephron segments. Hundreds of mutations have been identified to date. Such advances may result in the development of new therapies (see the image below). [2] (See Pathophysiology and Etiology.)

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