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HNF1B variant without hyperglycaemia as a cause of isolated profound hypomagnesaemia

Vollmer, Shobitha ; Katzman, Per LU and Londahl, Magnus LU (2023) In BMJ Case Reports 16(2).
Abstract

A young man presented unconscious with severe hyponatraemia, hypokalaemia, hypomagnesaemia and metabolic alkalosis. After 4 months of treatment in hospital, the hypomagnesaemia persisted. The patient had no signs of diabetes mellitus, and radiology showed no abnormalities of the kidneys, pancreas or genitourinary tract. A parenteral magnesium load demonstrated renal wasting with increased fractional urinary excretion of magnesium. Genetic tests for Gitelman as well as Bartter syndromes were negative. However, a wider genetic panel revealed that the patient was heterozygous for a deletion on chromosome band 17q12, encompassing the whole HNF1B gene.This case highlights the importance of considering pathogenic HNF1B variants in isolated... (More)

A young man presented unconscious with severe hyponatraemia, hypokalaemia, hypomagnesaemia and metabolic alkalosis. After 4 months of treatment in hospital, the hypomagnesaemia persisted. The patient had no signs of diabetes mellitus, and radiology showed no abnormalities of the kidneys, pancreas or genitourinary tract. A parenteral magnesium load demonstrated renal wasting with increased fractional urinary excretion of magnesium. Genetic tests for Gitelman as well as Bartter syndromes were negative. However, a wider genetic panel revealed that the patient was heterozygous for a deletion on chromosome band 17q12, encompassing the whole HNF1B gene.This case highlights the importance of considering pathogenic HNF1B variants in isolated profound hypomagnesaemia caused by renal wasting. Pathogenic HNF1B variants may partly mimic hypomagnesaemia found in Gitelman and Bartter syndromes and may be present without other features linked to HNF1B variants, including diabetes mellitus.

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author
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organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Diabetes, Fluid electrolyte and acid-base disturbances, Genetic screening / counselling, Genetics
in
BMJ Case Reports
volume
16
issue
2
publisher
BMJ Publishing Group
external identifiers
  • scopus:85147785660
  • pmid:36759045
ISSN
1757-790X
DOI
10.1136/bcr-2022-254274
language
English
LU publication?
yes
id
9d593632-637a-42e6-85f5-84d80bc788a2
date added to LUP
2023-02-20 15:43:38
date last changed
2024-06-13 14:35:36
@article{9d593632-637a-42e6-85f5-84d80bc788a2,
  abstract     = {{<p>A young man presented unconscious with severe hyponatraemia, hypokalaemia, hypomagnesaemia and metabolic alkalosis. After 4 months of treatment in hospital, the hypomagnesaemia persisted. The patient had no signs of diabetes mellitus, and radiology showed no abnormalities of the kidneys, pancreas or genitourinary tract. A parenteral magnesium load demonstrated renal wasting with increased fractional urinary excretion of magnesium. Genetic tests for Gitelman as well as Bartter syndromes were negative. However, a wider genetic panel revealed that the patient was heterozygous for a deletion on chromosome band 17q12, encompassing the whole HNF1B gene.This case highlights the importance of considering pathogenic HNF1B variants in isolated profound hypomagnesaemia caused by renal wasting. Pathogenic HNF1B variants may partly mimic hypomagnesaemia found in Gitelman and Bartter syndromes and may be present without other features linked to HNF1B variants, including diabetes mellitus.</p>}},
  author       = {{Vollmer, Shobitha and Katzman, Per and Londahl, Magnus}},
  issn         = {{1757-790X}},
  keywords     = {{Diabetes; Fluid electrolyte and acid-base disturbances; Genetic screening / counselling; Genetics}},
  language     = {{eng}},
  month        = {{02}},
  number       = {{2}},
  publisher    = {{BMJ Publishing Group}},
  series       = {{BMJ Case Reports}},
  title        = {{HNF1B variant without hyperglycaemia as a cause of isolated profound hypomagnesaemia}},
  url          = {{http://dx.doi.org/10.1136/bcr-2022-254274}},
  doi          = {{10.1136/bcr-2022-254274}},
  volume       = {{16}},
  year         = {{2023}},
}