UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

De novo HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia

Stiles, CE; Thursaisingham, R; Bockenhauer, D; Platts, L; Kumar, A; Korbonits, M; (2018) De novo HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia. Endocrinology, Diabetes and Metabolism Case Reports , 2018 (1) 10.1530/EDM-17-0120. Green open access

[thumbnail of De novo HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia.pdf]
Preview
Text
De novo HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia.pdf - Published Version

Download (1MB) | Preview

Abstract

29-year-old female presenting with an 8-year history of unexplained hypomagnesaemia, which was severe enough to warrant intermittent inpatient admission for intravenous magnesium. Urinary magnesium was inappropriately normal in the context of hypomagnesaemia indicating magnesium wasting. Ultrasound imaging demonstrated unilateral renal cysts and computed tomography of kidneys, ureters and bladder showed a bicornuate uterus. Referral to genetic services and subsequent testing revealed a de novo HNF1B deletion.

Type: Article
Title: De novo HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia
Open access status: An open access version is available from UCL Discovery
DOI: 10.1530/EDM-17-0120
Publisher version: https://doi.org/10.1530/EDM-17-0120
Language: English
Additional information: Copyright © 2018 The authors. This work is licensed under a Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/).
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Renal Medicine
URI: https://discovery.ucl.ac.uk/id/eprint/10044305
Downloads since deposit
52Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item