Disorder | Gene affected | Gene product | Clinical presentation |
---|---|---|---|
Bartter syndrome type I | SLC12A1 | NKCC2 | Antenatal Bartter syndrome (Hyperprostaglandin E syndrome) |
Bartter syndrome type II | KCNJ1 | ROMK | Antenatal Bartter syndrome |
Bartter syndrome type III | CLCKB | CLC-Kb | Hypochloremia., mild hypomagnesemia, FTT in infancy |
Bartter syndrome type IVA | BSND | Barttin (B-subunit of CLC-Ka and CLC-Kb) | Antenatal Bartter syndrome (Hyperprostaglandin E syndrome) and sensorineural deafness |
Bartter syndrome type IVB | CLCNKA and CLCNKB | CLC-Ka and CLC-Kb | Antenatal Bartter syndrome (Hyperprostaglandin E syndrome) and sensorineural deafness |
Bartter syndrome type V• | CaSR gene | CaSR | Bartter syndrome with hypocalcemia |
Gitelman syndrome | SLC12A3 | NCC (thiazide- sensitive NaCl co-transporter). | Hypomagnesemia, hypocalcuria, growth retardation |