Magnesium and Human Health: Perspectives and Research Directions

Table 6

The most common genetic disorders causing hypomagnesemia.

Disorder	Inheritance	Gene	Other features (other than hypomagnesemia)
Hypercalciuric hypomagnesemias			Hypercalciuria and nephrocalcinosis
FHHNC type 1	AR	CLDN16	Polyuria/polydipsia, elevated serum PTH, and renal failure
FHHNC type 2	AR	CLDN19	Besides FHHNC type 1 features, patient has ocular abnormalities
ADHH Bartter syndrome type 5	AD	CASR	Hypocalcemia with normal or low PTH
Bartter syndrome type 3 (classical type)	AR	CLCNKB	Gitelman-like phenotype possible, rarely nephrocalcinosis
Gitelman-like hypomagnesemias	Hypocalciuria, hypokalemia, and metabolic alkalosis
Gitelman syndrome	AR	SLC12A3	Chondrocalcinosis at older age
ADTKD/RCAD	AD	HNF1B	Renal, genital, and pancreatic abnormalities
Mitochondrial hypomagnesemias
KSS	Mt	Mitochondrial deletion	External ophthalmoplegia, retinopathy, and cardiac conduction defects

ADHH: autosomal dominant hypocalcemia with hypocalciuria; ADTKD: autosomal dominant tubulointerstitial kidney disease; FHHNC: familial hypomagnesemia with hypocalcemia and nephrocalcinosis; RCAD: renal cysts and diabetes; KSS: Kearns-Sayre syndrome; AR: autosomal recessive; AD: autosomal dominant.