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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the renin-angiotensin system
Journal of the American Society of Nephrology, Volume 17, No. 8, Year 2006
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Description
Renal tubular dysgenesis is a clinical disorder that is observed in fetuses and characterized by the absence or poor development of proximal tubules, early onset and persistent oligohydramnios that leads to the Potter sequence, and skull ossification defects. It may be acquired during fetal development or inherited as an autosomal recessive disease. It was shown recently that autosomal recessive renal tubular dysgenesis is genetically heterogeneous and linked to mutations in the genes that encode components of the renin-angiotensin system. This study analyzed the clinical expression of the disease in 29 fetus/neonates from 18 unrelated families and evaluated changes in renal morphology and expression of the renin-angiotensin system. The disease was uniformly severe, with perinatal death in all cases as a result of persistent anuria and hypoxia related to pulmonary hypoplasia. Severe defects in proximal tubules were observed in all fetuses from 18 gestational weeks onward, and lesions also involved other tubular segments. They were associated with thickening of the renal arterial vasculature, from the arcuate to the afferent arteries. Renal renin expression was strikingly increased in 19 of 24 patients studied, from 13 families, whereas no renal renin was detected in four patients from three families. Angiotensinogen and angiotensin-converting enzyme were absent or present in only small amounts in the proximal tubule, in correlation with the severity of tubular abnormalities. No specific changes were detected in angiotensin II receptor expression. The severity and the early onset of the clinical and pathologic expression of the disease underline the major importance of this system in fetal kidney function and development in humans. The identification of the disease on the basis of precise histologic analysis and the research of the genetic defect now allow genetic counseling and early prenatal diagnosis. Copyright © 2006 by the American Society of Nephrology.
Authors & Co-Authors
Lacoste, Mireille
France, Paris
Inserm
Cai, Yi
France, Paris
Inserm
Guicharnaud, Liliane
France, Paris
Inserm
Mounier, Françoise
France, Paris
Inserm
Dumez, Yyves
France, Paris
Hôpital Necker Enfants Malades
Bouvier, Raymonde J.
France, Lyon
Hopital Edouard Herriot
Dijoud, Frédérique
France, Lyon
Hopital Debrousse
Gonzalès, Marie Françoise
France, Paris
Hôpital Saint-antoine
Chatten, Jane
United States, Philadelphia
The Children's Hospital of Philadelphia
Delezoide, Anne
France, Paris
Hôpital Robert-debré Ap-hp
Daniel, Laurent
France, Marseille
Hopital la Timone
Joubert, Madeleine
France, Nantes
Hôtel Dieu Chu de Nantes
Laurent, Nicole
France, Dijon
Centre Hospitalier Universitaire Dijon Bourgogne
Aziza, Jacqueline
France, Toulouse
Hôpital Purpan
Sellami, Tahya Boudawara
Tunisia, Sfax
Chu Habib Bourguiba
Ben Amar, H.
Tunisia, Sfax
Chu Hedi-chaker
Jarnet, Catherine
France, Toulon
Centre Hospitalier Intercommunal
Frances, Anne Marie
France, Toulon
Hôpital Font-pré
Daïkha-Dahmane, Farida
France, Poissy
Centre Hospitalier Intercommunal Poissy-st-germain-en-laye
Coulomb, Aurore
France, Clamart
Hopital Antoine Beclere
Neuhaus, Thomas J.
Switzerland, Zurich
Kinderspital Zürich
Foliguet, Bernard
France, Nancy
Secteur de Foetopathologie
Chenal, Pierre
France, Nancy
Maternite Regionale de Nancy
Marcorelles, Pascale
France, Brest
Centre Hospitalier Universitaire de Brest
Gasc, Jean Marie
France, Paris
Inserm
Corvol, Pierre L.
France, Paris
Inserm
Gübler, Marie Claire
France, Paris
Inserm
France, Paris
Hôpital Necker Enfants Malades
Statistics
Citations: 27
Authors: 27
Affiliations: 21
Identifiers
Doi:
10.1681/ASN.2005121303
ISSN:
10466673
Research Areas
Genetics And Genomics
Maternal And Child Health