[Renal tubular dysgenesis and mutation in the renin gene].
Renal tubular dysgenesis is a severe and rare disorder of the renal development characterized by fetal anuria, oligohydramnios and early death from pulmonary hypoplasia and refractory arterial hypotension. We report on a female patient who presented with anuria in the neonatal period, requiring peritoneal dialysis until 5 months of age with unexpected diuresis recovery at 2 months of age. Clinical, histological and pathophysiological issues are discussed for this disease related to a mutation in the renin gene.
Bacchetta
J
J
Centre de référence des maladies rénales héréditaires, département de pédiatrie, hôpital Edouard-Herriot et université Claude-Bernard-Lyon-I, 69437 Lyon cedex 03, France.
Dijoud
F
F
Bouvier
R
R
Putet
G
G
Gubler
M-C
MC
Cochat
P
P
D000808:Angiotensinogen / Q000235:genetics*; D001002:Anuria / Q000209:etiology; D004231:Diuresis; D005260:Female; D006801:Humans; D007223:Infant; D007684:Kidney Tubules / Q000002:abnormalities*; D009154:Mutation; D020127:Recovery of Function; D051437:Renal Insufficiency / Q000209:etiology; D012083:Renin / Q000235:genetics*
D000808:Angiotensinogen; D012083:Renin