Inherited renal tubular dysgenesis: the first patients surviving the neonatal period
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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.
KeywordsRenin-angiotensin system Renal tubular dysgenesis Inherited
We thank Dr Raymonde Bouvier (Lyon) and Dr Frederique Dijoud (Lyon) for providing the histological slides.
- 4.Gribouval O, Gonzales M, Neuhaus TJ, Aziza J, Bieth E, Laurent N, Bouton JM, Feuillet F, Makni S, Amar HB, Laube GF, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC (2005) Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. Nature Genetics 37:964–968PubMedCrossRefGoogle Scholar
- 7.Lacoste M, Cai Y, Guicharnaud L, Mounier F, Dumez Y, Bouvier R, Dijoud F, Gonzales M, Chatten J, Delezoide AL, Daniel L, Joubert M, Laurent N, Aziza J, Sellami T, Amar HB, Jarnet C, Frances AM, Daikha-Dahmane F, Coulomb A, Neuhaus TJ, Foliguet B, Chenal P, Marcorelles P, Gasc JM, Corvol P, Gubler MC (2006) Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: role of the Renin-Angiotensin system. J Am Soc Nephrol 17(8):2253–2263PubMedCrossRefGoogle Scholar
- 10.Pryde PG, Sedman AB, Nugent CE, Barr M Jr (1993) Angiotensin-converting enzyme inhibitor fetopathy. J Am Soc Nephrol 3(9):575–582Google Scholar