Article
[Renal tubular dysgenesis and mutations in the renin-angiotensin system genes].
Bulletin de l'Academie nationale de medecine - 1 Feb 2014
Gubler Marie-Claire, Gribouval Olivier, Antignac Corinne, Michaud Annie, Corvol Pierre
Abstract excerpt
Renal tubular dysgenesis is a severe disease characterized by the absence of differentiated proximal tubules, leading to fetal anuria and persistent oligohydramnios. The absence of amniotic fluid results in a series of malformations, including facial dysmorphia, limb deformation and also lung hypoplasia, leading to respiratory distress at birth. The disease is linked to mutations in the AGT, REN ACE andAGTR1...
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