Combined proximal and distal renal tubular acidosis (RTA type 3)

Definition:

Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. RTA type 3 is a mixed type that shares the features of both proximal and distal lesions, with impaired proximal bicarbonate reabsorption coupled with an inability to acidify the urine maximally despite severe degrees of systemic acidemia. The condition is due to an inherited deficiency of carbonic anhydrase II (CAII) caused by a recessive mutation in the CA2 gene on chromosome 8q22.

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]. K J Borthwick, et al. A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. J Med Genet. 2003 Feb;40(2):115-21. [Content Brief]

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