Article
Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.
Clinical journal of the American Society of Nephrology : CJASN - 1 Jul 2013
Madariaga Leire, Morinière Vincent, Jeanpierre Cécile, Bouvier Raymonde, Loget Philippe, Martinovic Jelena, Dechelotte Pierre, Leporrier Nathalie, Thauvin-Robinet Christel, Jensen Uffe Birk, Gaillard Dominique, Mathieu Michele, Turlin Bruno, Attie-Bitach Tania, Salomon Rémi, Gübler Marie-Claire, Antignac Corinne, Heidet Laurence
Abstract excerpt
BACKGROUND AND OBJECTIVES: Congenital anomalies of the kidney and urinary tract (CAKUT) are a frequent cause of renal failure in children, and their detection in utero is now common with fetal screening ultrasonography. The clinical course of CAKUT detected before birth is very heterogeneous and depends on the level of nephron reduction. The most severe forms cause life-threatening renal failure, leading to...
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