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Pediatric Nephrology
Published in: Pediatric Nephrology 5/2016

01-05-2016 | Review

HNF1B-associated clinical phenotypes: the kidney and beyond

Authors: Detlef Bockenhauer, Graciana Jaureguiberry

Published in: Pediatric Nephrology | Issue 5/2016

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Abstract

Mutations in HNF1B, the gene encoding hepatocyte nuclear factor 1β are the most commonly identified genetic cause of renal malformations. HNF1B was first identified as a disease gene for diabetes (MODY5) in 1997, and its involvement in renal disease was subsequently noted through clinical observations in pedigrees affected by MODY5. Since then, a whole spectrum of associated phenotypes have been reported, including genital malformations, autism, epilepsy, gout, hypomagnesaemia, primary hyperparathyroidism, liver and intestinal abnormalities and a rare form of kidney cancer. The most commonly identified mutation, in approximately 50 % of patients, is an entire gene deletion occurring in the context of a 17q12 chromosomal microdeletion that also includes several other genes. Some of the associated phenotypes, especially the neurologic ones, appear to occur only in the context of this microdeletion and thus may not be directly linked to HNF1B. Here we review the spectrum of associated phenotypes and discuss potential implications for clinical management.
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Metadata
Title
HNF1B-associated clinical phenotypes: the kidney and beyond
Authors
Detlef Bockenhauer
Graciana Jaureguiberry
Publication date
01-05-2016
Publisher
Springer Berlin Heidelberg
Published in
Pediatric Nephrology / Issue 5/2016
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-015-3142-2

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