| [ Summary ] |
Renal tubular acidosis (RTA), often accompanying multiple myeloma, is caused by the impairment of either proximal tubular bicarbonate absorption or distal tubular proton secretion. Fanconi's syndrome, with generalized proximal tubular dysfunction, causes glycosuria, aminoaciduria, hypophosphatemia, and rickets. Mutations in Na-HCO3 cotransporter NBCe 1 cause autosomal recessive proximal RTA associated with ocular abnormalities. While mutations in Cl/HCO3 AE1 cause autosomal dominant distal RTA, mutations in vacuolar-type H-ATPase cause autosomal recessive distal RTA. |