Article
Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.
American journal of human genetics - 1 Jun 1998
Vargas-Poussou R, Feldmann D, Vollmer M, Konrad M, Kelly L, van den Heuvel L P, Tebourbi L, Brandis M, Karolyi L, Hebert S C, Lemmink H H, Deschênes G, Hildebrandt F, Seyberth H W, Guay-Woodford L M, Knoers N V, Antignac C
Abstract excerpt
Antenatal Bartter syndrome is a variant of inherited renal-tubular disorders associated with hypokalemic alkalosis. This disorder typically presents as a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark of this variant is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and...
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