Congenital Renal Magnesium Wasting Syndromes

Congenital Renal Magnesium Wasting Syndromes

SYNDROMEINHERITANCEDEFECTPRESENTATION
Gitelman (most common)ARThiazide-sensitive sodium chloride cotransporter (SLC12A3)Children/adolescents/adults with salt wasting, hypokalemic metabolic alkalosis, and hypocalciuria
Bartter syndromeARLoop-sensitive sodium, potassium, 2Chloride channel (Na-K-2Cl)Neonate/Infancy with salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC)ARCaludin-16 geneChildren/adolescent with hypercalciuria , recurrent nephrocalcinosis, and progressive renal failure
Isolated dominant hypomagnesemia with hypocalciuriaADGamma subunit of Na-K-ATPase pump resulting in misroutingChildren with hypomagnesemia and hypocalciuria and no stones
Voltage-gated potassium channelADVoltage-gated potassium channel (KCNA1), which interacts with TMRP6Isolated hypomagnesemia and renal magnesium wasting

AD, Autosomal dominant; AR, autosomal recessive.

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