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 |