Journal article
Genetic causes of hypomagnesemia, a clinical overview
- Abstract:
- Magnesium is essential to the proper functioning of numerous cellular processes. Magnesium ion (Mg2+) deficits, as reflected in hypomagnesemia, can cause neuromuscular irritability, seizures and cardiac arrhythmias. With normal Mg2+ intake, homeostasis is maintained primarily through the regulated reabsorption of Mg2+ by the thick ascending limb of Henle’s loop and distal convoluted tubule of the kidney. Inadequate reabsorption results in renal Mg2+ wasting, as evidenced by an inappropriately high fractional Mg2+ excretion. Familial renal Mg2+ wasting is suggestive of a genetic cause, and subsequent studies in these hypomagnesemic families have revealed over a dozen genes directly or indirectly involved in Mg2+ transport. Those can be classified into four groups: hypercalciuric hypomagnesemias (encompassing mutations in CLDN16, CLDN19, CASR, CLCNKB), Gitelman-like hypomagnesemias (CLCNKB, SLC12A3, BSND, KCNJ10, FYXD2, HNF1B, PCBD1), mitochondrial hypomagnesemias (SARS2, MT-TI, Kearns–Sayre syndrome) and other hypomagnesemias (TRPM6, CNMM2, EGF, EGFR, KCNA1, FAM111A). Although identification of these genes has not yet changed treatment, which remains Mg2+ supplementation, it has contributed enormously to our understanding of Mg2+ transport and renal function. In this review, we discuss general mechanisms and symptoms of genetic causes of hypomagnesemia as well as the specific molecular mechanisms and clinical phenotypes associated with each syndrome.
- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Preview, Version of record, pdf, 951.5KB, Terms of use)
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- Publisher copy:
- 10.1007/s00467-016-3416-3
Authors
+ European Commission
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- Funder identifier:
- https://ror.org/00k4n6c32
- Grant:
- 2012-305608
- Programme:
- Seventh Framework Programme
- Publisher:
- Springer
- Journal:
- Pediatric Nephrology More from this journal
- Volume:
- 32
- Issue:
- 7
- Pages:
- 1123–1135
- Publication date:
- 2016-05-27
- Acceptance date:
- 2016-05-04
- DOI:
- EISSN:
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1432-198X
- ISSN:
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0931-041X
- Language:
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English
- Keywords:
- Pubs id:
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pubs:633121
- UUID:
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uuid:171a2359-e036-47e7-8f79-a0dac29a28fb
- Local pid:
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pubs:633121
- Source identifiers:
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633121
- Deposit date:
-
2016-07-12
Terms of use
- Copyright holder:
- Viering et al
- Copyright date:
- 2016
- Rights statement:
- © The Author(s) 2016. This article is published with open access at Springerlink.com. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
- Licence:
- CC Attribution (CC BY)
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