NDLI: Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes

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Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Madariaga, Leire Morinière, Vincent Jeanpierre, Cécile Bouvier, Raymonde Loget, Philippe Martinovic, Jelena Dechelotte, Pierre Leporrier, Nathalie Thauvin-Robinet, Christel Jensen, Uffe Birk Gaillard, Dominique Mathieu, Michele Turlin, Bruno Attie-Bitach, Tania Salomon, Rémi Gübler, Marie-Claire Antignac, Corinne Heidet, Laurence
Description	Country affiliation: France Author Affiliation: Madariaga L ( Assistance Publique Hôpitaux de Paris, Service de Néphrologie Pédiatrique, Hôpital Necker-Enfants malades, Paris, France.)
Abstract	BACKGROUND AND OBJECTIVES: Congenital anomalies of the kidney and urinary tract (CAKUT) are a frequent cause of renal failure in children, and their detection in utero is now common with fetal screening ultrasonography. The clinical course of CAKUT detected before birth is very heterogeneous and depends on the level of nephron reduction. The most severe forms cause life-threatening renal failure, leading to perinatal death or the need for very early renal replacement therapy. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: This study reports the screening of two genes (HNF1B and PAX2) involved in monogenic syndromic CAKUT in a cohort of 103 fetuses from 91 families with very severe CAKUT that appeared isolated by fetal ultrasound examination and led to termination of pregnancy. RESULTS: This study identified a disease-causing mutation in HNF1B in 12 cases from 11 families and a mutation in PAX2 in 4 unrelated cases. Various renal phenotypes were observed, but no case of bilateral agenesis was associated with HNF1B or PAX2 mutations. Autopsy identified extrarenal abnormalities not detected by ultrasonography in eight cases but confirmed the absence of extrarenal defects in eight other cases. A positive family history of renal disease was not significantly more frequent in cases with an identified mutation. Moreover, in cases with an inherited mutation, there was a great phenotypic variability regarding the severity of the renal disease within a single family. CONCLUSIONS: Our results suggest that mutations in genes involved in syndromic CAKUT with Mendelian inheritance are not rare in fetal cases with severe CAKUT appearing isolated at prenatal ultrasound, a finding of clinical importance because of genetic counseling.
File Format	HTM / HTML
ISSN	15559041
e-ISSN	1555905X
DOI	10.2215/CJN.10221012
Journal	Clinical Journal of the American Society of Nephrology
Issue Number	7
Volume Number	8
Language	English
Publisher	American Society of Nephrology
Publisher Date	2013-07-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Research Support, Non-u.s. Gov't Urogenital Abnormalities Predictive Value Of Tests Autopsy Genetics Retrospective Studies Hepatocyte Nuclear Factor 1-beta Diagnosis Severity Of Illness Index Abortion, Therapeutic Pax2 Transcription Factor Vesico-ureteral Reflux Prenatal Diagnosis Discipline Nephrology Heredity Genetic Predisposition To Disease Pregnancy Phenotype Pedigree Ultrasonography, Prenatal Mutation Dna Mutational Analysis
Content Type	Text
Resource Type	Article
Subject	Transplantation Critical Care and Intensive Care Medicine Nephrology Epidemiology

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