Major causes of type 2 (proximal) renal tubular acidosis with or without the Fanconi syndrome

Primary

Idiopathic (sporadic)

Familial

Recessive

Proximal tubule cell sodium bicarbonate co-transporter (NBCe1) defect in SLC4A4
Carbonic anhydrase type 2 deficiency (usually causes mixed type 2 and type 1 or type 3)

Dominant, isolated HCO₃ wasting

Cystinosis

Tyrosinemia

Hereditary fructose intolerance

Galactosemia

Glycogen storage disease (type I)

Wilson disease

Lowe syndrome

Acquired disorders

Drugs

Ifosfamide

Tenofovir and other antiretroviral drugs

Carbonic anhydrase inhibitors – Acetazolamide, topiramate

Aminoglycosides

Oxaliplatin/cisplatin

M-protein disorders

Amyloidosis

Multiple myeloma/light chain disease

Heavy metals

Lead

Cadmium

Mercury

Copper

Vitamin D deficiency or vitamin D resistance

Kidney transplantation

Paroxysmal nocturnal hemoglobinuria

Sjögren syndrome (more commonly causes distal RTA)

RTA: renal tubular acidosis; CNS: central nervous system; HCO₃: bicarbonate.

Graphic 68165 Version 16.0