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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis
Nature Genetics, Volume 37, No. 9, Year 2005
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Description
Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (Potter phenotype). Absence or paucity of differentiated proximal tubules is the histopathological hallmark of the disease and may be associated with skull ossification defects. We studied 11 individuals with renal tubular dysgenesis, belonging to nine families, and found that they had homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1. We propose that renal lesions and early anuria result from chronic low perfusion pressure of the fetal kidney, a consequence of renin-angiotensin system inactivity. This is the first identification to our knowledge of a renal mendelian disorder linked to genetic defects in the renin-angiotensin system, highlighting the crucial role of the renin-angiotensin system in human kidney development. © 2005 Nature Publishing Group.
Authors & Co-Authors
Gribouval, Olivier
France, Paris
Inserm
Gonzalès, Marie Françoise
France, Paris
Hôpital Saint-antoine
Neuhaus, Thomas J.
Switzerland, Zurich
Kinderspital Zürich
Aziza, Jacqueline
France, Toulouse
Hôpital Purpan
Bieth, Éric
France, Toulouse
Hôpital Purpan
Laurent, Nicole
France, Dijon
Centre Hospitalier Universitaire Dijon Bourgogne
Bouton, Jean Marie
France, Antony
Hôpital Privé D'antony
Feuillet, François
France, Vandoeouvre-les-nancy
Hopital D'enfants Chu Nancy
Makni, Saloua Krichen
Tunisia, Sfax
Chu Habib Bourguiba
Amar, Hatem Ben
Tunisia, Sfax
Chu Hedi-chaker
Laube, Guido F.
Switzerland, Zurich
Kinderspital Zürich
Delezoide, Anne
France, Paris
Hôpital Robert-debré Ap-hp
Bouvier, Raymonde J.
France, Lyon
Hopital Edouard Herriot
Dijoud, Frédérique
France, Lyon
Hopital Debrousse
Ollagnon-Roman, Elisabeth
France, Lyon
Hopital de la Croix-rousse
Roume, Joëlle
France, Poissy
Centre Hospitalier Intercommunal Poissy-st-germain-en-laye
Joubert, Madeleine
France, Nantes
Hôtel Dieu Chu de Nantes
Antignac, Corinne
France, Paris
Inserm
France, Paris
Hôpital Necker Enfants Malades
Gübler, Marie Claire
France, Paris
Inserm
Statistics
Citations: 247
Authors: 19
Affiliations: 16
Identifiers
Doi:
10.1038/ng1623
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Genetics And Genomics