Renal malformations associated with mutations of developmental genes: messages from the clinic |
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Authors: | Shazia Adalat Detlef Bockenhauer Sarah E Ledermann Raoul C Hennekam Adrian S Woolf |
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Institution: | (1) UCL Institute of Child Health and Great Ormond Street Hospital NHS Trust, London, UK;(2) Department of Pediatrics, University of Amsterdam, Amsterdam, The Netherlands;(3) University of Manchester and Manchester Children’s Hospital, Manchester, England;(4) Developmental and Regenerative Medicine Research Group, University of Manchester, Oxford Road, Manchester, M13 9PT, UK; |
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Abstract: | Renal tract malformations (RTMs) account for about 40% of children with end-stage renal failure. RTMs can be caused by mutations
of genes normally active in the developing kidney and lower renal tract. Moreover, some RTMs occur in the context of multi-organ
malformation syndromes. For these reasons, and because genetic testing is becoming more widely available, pediatric nephrologists
should work closely with clinical geneticists to make genetic diagnoses in children with RTMs, followed by appropriate family
counseling. Here we highlight families with renal cysts and diabetes, renal coloboma and Fraser syndromes, and a child with
microdeletion of chromosome 19q who had a rare combination of malformations. Such diagnoses provide families with often long-sought
answers to the question “why was our child born with kidney disease”. Precise genetic diagnoses will also help to define cohorts
of children with RTMs for long-term clinical outcome studies. |
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