Hypomagnesemia as First Clinical Manifestation of ADTKD-HNF1B: A Case Series and Literature Review

American Journal of Nephrology
Cas I van der MadeJeroen H F de Baaij

Abstract

Autosomal dominant tubulointerstitial kidney disease subtype HNF1B (ADTKD-HNF1B) is caused by a mutation in hepatocyte nuclear factor 1 homeobox beta (HNF1B). Although 50-60% of ADTKD-HNF1B patients develop hypomagnesemia, HNF1B mutations are mainly identified in patients with structural kidney defects or diabetes. The current case series describes 3 patients in whom hypomagnesemia proved to be the first clinical manifestation of ADTKD-HNF1B. All patients presented with hypomagnesemia with a high fractional excretion of Mg2+ and hypocalciuria. Exome sequencing performed for analysis of known and candidate hypomagnesaemia genes and subsequent multiplex ligation-dependent probe amplification analysis revealed a large deletion at the chromosome 17q12. Follow-up analysis showed increased blood glucose concentrations in all 3 patients and high hemoglobin A1c levels in 2 out of 3 patients, indicating diabetes mellitus. Although all patients suffered from mild renal insufficiency, only 1 of the 3 patients was shown to have renal cysts on CT. The prevalence of HNF1B mutations and the relative contribution of hypomagnesemia to its symptoms are underestimated. Therefore, patients with primary renal magnesium wasting should be tested for ...Continue Reading

Citations

May 29, 2016·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Daan H H M VieringDetlef Bockenhauer
Jun 8, 2018·Annals of Clinical Biochemistry·Tomáš SeemanUlrike John
Aug 12, 2018·Journal of the American Society of Nephrology : JASN·Siu Chiu ChanPeter Igarashi
Jan 23, 2019·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Christine OkornStefanie Weber
May 9, 2019·Archives of Endocrinology and Metabolism·Renata P DottoAndré F Reis
Jul 31, 2019·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Anna C van der BurghEwout J Hoorn
Aug 11, 2020·American Journal of Medical Genetics. Part a·Mark StevensonRajesh V Thakker
Mar 27, 2018·Endocrinology, Diabetes & Metabolism Case Reports·C E StilesM Korbonits
Dec 24, 2018·Obstetric Medicine·Stephanie Teasdale, Adam Morton
May 25, 2016·Current Opinion in Nephrology and Hypertension·Zalman S Agus
May 11, 2020·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Marcin KołbucMarcin Zaniew
Apr 25, 2018·Frontiers in Pediatrics·Paula Giménez-MascarellDominik Müller
Sep 17, 2020·The Journal of Physiology·Lucile FigueresPascal Houillier
Apr 29, 2021·The Proceedings of the Nutrition Society·Willem BosmanJeroen H F de Baaij

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