[Renal tubular dysgenesis and mutation in the renin gene].

Abstract

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.

• Authors: J Bacchetta, F Dijoud, R Bouvier, G Putet, M-C Gubler, P Cochat
• Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie (Arch Pediatr) Vol. 14 Issue 9 Pg. 1084-7 (Sep 2007) ISSN: 0929-693X [Print] France
• Vernacular Title: Dysgénésie tubulaire proximale et mutation du gène de la rénine.
• PMID: 17555949 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Angiotensinogen
• Renin

Topics

• Angiotensinogen (genetics)
• Anuria (etiology)
• Diuresis
• Female
• Humans
• Infant
• Kidney Tubules (abnormalities)
• Mutation
• Recovery of Function
• Renal Insufficiency (etiology)
• Renin (genetics)