Table 3.
Types of Bartter syndrome | Defective gene |
---|---|
Type I (Neonatal) | Na-K 2 Cl channel mutation |
Type II (Neonatal) | Apical K channel mutation |
Type III (Classic) | Basolateral Cl channel mutation |
Type IV (Neonatal with SNHL) | Basolateral Cl channel mutation (β subunit) |
Type V (Classic) | Gain of function in CaSR |
Based on defect on any of the below mentioned channels BS has been classified into five types. Mostly BS presents in neonatal period except type V which presents in adolescents and early adulthood