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. 2001 May;94(5):221–225. doi: 10.1177/014107680109400506

Box 3.

Inherited forms of renal tubular acidosis

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