Congenital Renal Magnesium Wasting Syndromes
| SYNDROME | INHERITANCE | DEFECT | PRESENTATION |
|---|---|---|---|
| Gitelman (most common) | AR | Thiazide-sensitive sodium chloride cotransporter (SLC12A3) | Children/adolescents/adults with salt wasting, hypokalemic metabolic alkalosis, and hypocalciuria |
| Bartter syndrome | AR | Loop-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) | AR | Caludin-16 gene | Children/adolescent with hypercalciuria , recurrent nephrocalcinosis, and progressive renal failure |
| Isolated dominant hypomagnesemia with hypocalciuria | AD | Gamma subunit of Na-K-ATPase pump resulting in misrouting | Children with hypomagnesemia and hypocalciuria and no stones |
| Voltage-gated potassium channel | AD | Voltage-gated potassium channel (KCNA1), which interacts with TMRP6 | Isolated hypomagnesemia and renal magnesium wasting |
AD, Autosomal dominant; AR, autosomal recessive.
