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Pediatric Nephrology

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08.07.2015 | Review

HNF1B-associated clinical phenotypes: the kidney and beyond

verfasst von: Detlef Bockenhauer, Graciana Jaureguiberry

Erschienen in: Pediatric Nephrology | Ausgabe 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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Titel: HNF1B-associated clinical phenotypes: the kidney and beyond
verfasst von: Detlef Bockenhauer
Graciana Jaureguiberry
Publikationsdatum: 08.07.2015
Verlag: Springer Berlin Heidelberg
Erschienen in: Pediatric Nephrology / Ausgabe 5/2016
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-015-3142-2

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