Table 5: Ascending limb genetic disorders.

Gene Protein Inheritance Onset Comments
SLC12A2 NKCC2 AR Infancy Bartter syndrome type 1 - hypokalemia, metabolic alkalosis, hypercalciuria, FTT
KCNJ1 ROMK AR Infancy Bartter syndrome type 2
CLCNKB CLCNKB AR Infancy Bartter syndrome type 3
BSND Bartin AR Infancy Bartter syndrome type 4, deafness
CASR Calcium-sensing receptor AD Childhood to adulthood Bartter type 5, mild hypokalemia with hypocalcemia
CLDN-16 Claudin-16 AR Childhood FHHN - familial, hypomagnesemia, hypercalciuria, nephrocalcinosis, ESRD
CLDN-19 Caludin-19 AR Childhood FHHN
UMOD Uromodulin AD Adolescence Hyperuricemia, gout, ESRD