The Experts below are selected from a list of 90 Experts worldwide ranked by ideXlab platform
Laurent Daniel - One of the best experts on this subject based on the ideXlab platform.
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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, 2006Co-Authors: M Lacoste, Liliane Guicharnaud, Francoise Mounier, Y Dumez, R Bouvier, Frederique Dijoud, Marie Gonzales, Jane Chatten, Annelise Delezoide, Laurent DanielAbstract: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.
Sophie Blesson - One of the best experts on this subject based on the ideXlab platform.
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spectrum of mutations in the renin angiotensin system genes in autosomal recessive renal tubular dysgenesis
Human Mutation, 2012Co-Authors: Olivier Gribouval, Vincent Moriniere, Audrey Pawtowski, Christelle Arrondel, Satuleena Sallinen, Carola Saloranta, Carol L Clericuzio, Geraldine Viot, Julia Tantau, Sophie BlessonAbstract:Autosomal recessive renal tubular dysgenesis (RTD) is a severe disorder of renal tubular development characterized by early onset and persistent fetal anuria leading to oligohydramnios and the Potter Sequence, associated with skull ossification defects. Early death occurs in most cases from anuria, pulmonary hypoplasia, and refractory arterial hypotension. The disease is linked to mutations in the genes encoding several components of the renin-angiotensin system (RAS): AGT (angiotensinogen), REN (renin), ACE (angiotensin-converting enzyme), and AGTR1 (angiotensin II receptor type 1). Here, we review the series of 54 distinct mutations identified in 48 unrelated families. Most of them are novel and ACE mutations are the most frequent, observed in two-thirds of families (64.6%). The severity of the clinical course was similar whatever the mutated gene, which underlines the importance of a functional RAS in the maintenance of blood pressure and renal blood flow during the life of a human fetus. Renal hypoperfusion, whether genetic or secondary to a variety of diseases, precludes the normal development/ differentiation of proximal tubules. The identification of the disease on the basis of precise clinical and histological analyses and the characterization of the genetic defects allow genetic counseling and early prenatal diagnosis.
M Lacoste - One of the best experts on this subject based on the ideXlab platform.
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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, 2006Co-Authors: M Lacoste, Liliane Guicharnaud, Francoise Mounier, Y Dumez, R Bouvier, Frederique Dijoud, Marie Gonzales, Jane Chatten, Annelise Delezoide, Laurent DanielAbstract: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.
Michael C Falk - One of the best experts on this subject based on the ideXlab platform.
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renal tubular dysgenesis and neonatal hemochromatosis without pulmonary hypoplasia
Pediatric Nephrology, 2004Co-Authors: Scott Morris, Satoshi Akima, Jane E Dahlstrom, David Ellwood, Alison L Kent, Michael C FalkAbstract:Renal tubular dysgenesis is a rare disorder of differentiation of the fetal kidney. The condition has previously been reported as a postmortem diagnosis in infants who have had oligohydramnios commencing after 20 weeks gestation and have died of renal or respiratory failure shortly after birth with a clinical description of Potter Sequence. The absence of clinically significant pulmonary hypoplasia in our case serves to emphasize that renal tubular dysgenesis, fetal anuria and long-standing oligohydramnios can occur without pulmonary insufficiency. The coexistence of renal tubular dysgenesis with neonatal hemochromatosis has been previously described in four published cases. The link between these two rare conditions is clinically important if dialysis or liver transplantation is considered in infants with hepatic and renal failure. Antemortem diagnosis by renal biopsy in our case enabled parental counseling and avoided the inappropriate use of peritoneal dialysis.
Olivier Gribouval - One of the best experts on this subject based on the ideXlab platform.
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spectrum of mutations in the renin angiotensin system genes in autosomal recessive renal tubular dysgenesis
Human Mutation, 2012Co-Authors: Olivier Gribouval, Vincent Moriniere, Audrey Pawtowski, Christelle Arrondel, Satuleena Sallinen, Carola Saloranta, Carol L Clericuzio, Geraldine Viot, Julia Tantau, Sophie BlessonAbstract:Autosomal recessive renal tubular dysgenesis (RTD) is a severe disorder of renal tubular development characterized by early onset and persistent fetal anuria leading to oligohydramnios and the Potter Sequence, associated with skull ossification defects. Early death occurs in most cases from anuria, pulmonary hypoplasia, and refractory arterial hypotension. The disease is linked to mutations in the genes encoding several components of the renin-angiotensin system (RAS): AGT (angiotensinogen), REN (renin), ACE (angiotensin-converting enzyme), and AGTR1 (angiotensin II receptor type 1). Here, we review the series of 54 distinct mutations identified in 48 unrelated families. Most of them are novel and ACE mutations are the most frequent, observed in two-thirds of families (64.6%). The severity of the clinical course was similar whatever the mutated gene, which underlines the importance of a functional RAS in the maintenance of blood pressure and renal blood flow during the life of a human fetus. Renal hypoperfusion, whether genetic or secondary to a variety of diseases, precludes the normal development/ differentiation of proximal tubules. The identification of the disease on the basis of precise clinical and histological analyses and the characterization of the genetic defects allow genetic counseling and early prenatal diagnosis.