Erschienen in:
01.03.2008 | Original Article
Inherited renal tubular dysgenesis: the first patients surviving the neonatal period
verfasst von:
Andrea Zingg-Schenk, Justine Bacchetta, Pierre Corvol, Annie Michaud, Thomas Stallmach, Pierre Cochat, Olivier Gribouval, Marie-Claire Gubler, Thomas J. Neuhaus
Erschienen in:
European Journal of Pediatrics
|
Ausgabe 3/2008
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Abstract
Renal tubular dysgenesis (RTD) is a clinical disorder either acquired during fetal development or inherited as an autosomal recessive condition. Inherited RTD is caused by mutations in the genes encoding the components of the renin-angiotensin system angiotensinogen, renin, angiotensin-converting enzyme and angiotensin II receptor type 1. Inherited RTD is characterized by early onset oligohydramnios, skull ossification defects, preterm birth and neonatal pulmonary and renal failure. The histological hallmark is the absence or poor development of proximal tubules. So far, all patients died either in utero or shortly after birth. We report the first patients with inherited RTD surviving the neonatal period and still being alive. Genetic and functional analysis of the renin-angiotensin system contributes to the diagnosis of RTD. In conclusion, the clinical diagnosis of inherited RTD is easily missed after birth without renal biopsy or information on affected family members. Genetic and functional analysis of the renin-angiotensin system contributes to correct diagnosis.