HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

doi:10.1681/ASN.2008060633

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Article

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

Journal of the American Society of Nephrology : JASN - 1 May 2009

Adalat Shazia, Woolf Adrian S, Johnstone Karen A, Wirsing Andrea, Harries Lorna W, Long David A, Hennekam Raoul C, Ledermann Sarah E, Rees Lesley, van't Hoff William, Marks Stephen D, Trompeter Richard S, Tullus Kjell, Winyard Paul J, Cansick Janette, Mushtaq Imran, Dhillon Harjeeta K, Bingham Coralie, Edghill Emma L, Shroff Rukshana, Stanescu Horia, Ryffel Gerhart U, Ellard Sian, Bockenhauer Detlef

Abstract excerpt

Mutations in hepatocyte nuclear factor 1B (HNF1B), which is a transcription factor expressed in tissues including renal epithelia, associate with abnormal renal development. While studying renal phenotypes of children with HNF1B mutations, we identified a teenager who presented with tetany and hypomagnesemia. We retrospectively reviewed radiographic and laboratory data for all patients from a single center who...

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PMID: 19389850
DOI: 10.1681/ASN.2008060633
PMCID: PMC2678044

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FXYD2

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Source receipt: pubmed, retrieved 7 Sept 2026.

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