HNF1B mutations associate with hypomagnesemia and renal magnesium wasting
S Adalat, AS Woolf, KA Johnstone… - Journal of the …, 2009 - journals.lww.com
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 had been screened for an HNF1B
mutation. We found heterozygous mutations in 21 (23%) of 91 cases of renal malformation …
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 had been screened for an HNF1B
mutation. We found heterozygous mutations in 21 (23%) of 91 cases of renal malformation …