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Inherited renal tubular dysgenesis: the first patients surviving the neonatal period

Zingg-Schenk, Andrea ; Bacchetta, Justine ; Corvol, Pierre ; Michaud, Annie ; Stallmach, Thomas ; Cochat, Pierre ; Gribouval, Olivier ; Gubler, Marie-Claire ; Neuhaus, Thomas

In: European Journal of Pediatrics, 2008, vol. 167, no. 3, p. 311-316

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    Titre
    • Inherited renal tubular dysgenesis: the first patients surviving the neonatal period
    Auteur
    • Zingg-Schenk, Andrea. Nephrology Unit, University Children's Hospital, Steinwiesstrasse 75, 8032, Zürich, Switzerland
    • Bacchetta, Justine. Department of Pediatrics, Hopital Edouard-Herriot, University Claude-Bernard, Place D'Arsonval, 69437, Lyon Cedex 03, France
    • Corvol, Pierre. Inserm, U.3.6., Pathologie Vasculaire et Endocrinologie Rénale, College de France, 11, Place Marcelin Berthelot, 75231, Paris Cedex 05, France
    • Michaud, Annie. Inserm, U.3.6., Pathologie Vasculaire et Endocrinologie Rénale, College de France, 11, Place Marcelin Berthelot, 75231, Paris Cedex 05, France
    • Stallmach, Thomas. Department of Pathology, University Zürich, Rämistrasse 100, 8091, Zurich, Switzerland
    • Cochat, Pierre. Department of Pediatrics, Hopital Edouard-Herriot, University Claude-Bernard, Place D'Arsonval, 69437, Lyon Cedex 03, France
    • Gribouval, Olivier. Inserm U574, Hopital Necker-Enfants Malades, University René Descartes, 75730, Paris Cedex 15, France
    • Gubler, Marie-Claire. Inserm U574, Hopital Necker-Enfants Malades, University René Descartes, 75730, Paris Cedex 15, France
    • Neuhaus, Thomas. Nephrology Unit, University Children's Hospital, Steinwiesstrasse 75, 8032, Zürich, Switzerland
    Type de document
    • Postprint
    Langue
    • Anglais
    Publié dans
    • European Journal of Pediatrics, 2008, vol. 167, no. 3, p. 311-316. Springer-Verlag
    Autre version électronique
    Identifiant OAI-PMH
    • oai:doc.rero.ch:315567
    Summary
    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