Box 3.
Proximal |
• Various metabolic disorders with or without the Fanconi syndrome |
• CA(II) mutation(s)—autosomal recessive* (Ref 18) |
• Na+-HCO3- (NBC-SLC4A4) mutation(s)—autosomal recessive (Ref 17) |
Distal |
• Cl--HCO3- (AE1-SLC4A2) mutation(s)—autosomal dominant (Ref 14) |
• H+-ATPase (B1 subunit) mutation(s)—autosomal recessive with deafness (Ref 11) |
CA=carbonic anhydrase; *Can also be distal-like |