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.
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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 |
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