title: Inherited renal tubular dysgenesis: the first patients surviving the neonatal period.
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.
authors: Nephrology Unit, University Children's Hospital, Steinwiesstrasse 75, 8032, Zürich, Switzerland.
authors: Andrea
authors: A
authors: Zingg-Schenk
authors: Justine
authors: J
authors: Bacchetta
authors: Pierre
authors: P
authors: Corvol
authors: Annie
authors: A
authors: Michaud
authors: Thomas
authors: T
authors: Stallmach
authors: Pierre
authors: P
authors: Cochat
authors: Olivier
authors: O
authors: Gribouval
authors: Marie-Claire
authors: MC
authors: Gubler
authors: Thomas J
authors: TJ
authors: Neuhaus
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007684:Kidney Tubules / Q000002:abnormalities*; D008297:Male; D016104:Oligohydramnios / Q000235:genetics; D011247:Pregnancy; D012084:Renin-Angiotensin System / Q000235:genetics*