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2017 ; 32
(7
): 1123-1135
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Genetic causes of hypomagnesemia, a clinical overview
#MMPMID27234911
Viering DHHM
; de Baaij JHF
; Walsh SB
; Kleta R
; Bockenhauer D
Pediatr Nephrol
2017[Jul]; 32
(7
): 1123-1135
PMID27234911
show ga
Magnesium is essential to the proper functioning of numerous cellular processes.
Magnesium ion (Mg(2+)) deficits, as reflected in hypomagnesemia, can cause
neuromuscular irritability, seizures and cardiac arrhythmias. With normal Mg(2+)
intake, homeostasis is maintained primarily through the regulated reabsorption of
Mg(2+) by the thick ascending limb of Henle's loop and distal convoluted tubule
of the kidney. Inadequate reabsorption results in renal Mg(2+) wasting, as
evidenced by an inappropriately high fractional Mg(2+) excretion. Familial renal
Mg(2+) 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 Mg(2+) 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 Mg(2+) supplementation, it has contributed enormously to our
understanding of Mg(2+) 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.
|Arrhythmias, Cardiac/*blood/etiology
[MESH]
|Child
[MESH]
|Epithelial Sodium Channel Blockers/therapeutic use
[MESH]
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