Proximal renal tubular acidosis (RTA type 2)

Definition:

Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. Proximal RTA (type 2) is caused by an impairment of bicarbonate reabsorption in the proximal tubules, resulting in low renal bicarbonate threshold. Mutations in the gene SLC4A4, encoding Na+-HCO3- cotransporter (NBC-1), have been found in proximal RTA.

References:

[1]. Andrew C Fry, et al. Inherited renal acidoses. Physiology (Bethesda). 2007 Jun;22:202-11. [Content Brief]

[2]. J Rodríguez-Soriano, et al. New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies. Pediatr Nephrol. 2000 Oct;14(12):1121-36. [Content Brief]

[3]. Juan Rodríguez Soriano, et al. Renal tubular acidosis: the clinical entity. J Am Soc Nephrol. 2002 Aug;13(8):2160-70. [Content Brief]

[4]. T Igarashi, et al. Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. Nat Genet. 1999 Nov;23(3):264-6. [Content Brief]

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