Combined proximal and distal renal tubular acidosis

Renal tubular acidosis [DS:H02310]

Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. Type 3 RTA 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.

Urinary system disease

CA2 [HSA:760] [KO:K18245]

High salt intake

Sodium bicarbonate [DR:D01203]

PMID:11045400

Rodriguez-Soriano J

New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies.

Pediatr Nephrol 14:1121-36 (2000)
DOI:10.1007/s004670000407

PMID:17557941

Fry AC, Karet FE

Inherited renal acidoses.

Physiology (Bethesda) 22:202-11 (2007)
DOI:10.1152/physiol.00044.2006

PMID:12138150 (gene, env_factor, marker)

Rodriguez Soriano J

Renal tubular acidosis: the clinical entity.

J Am Soc Nephrol 13:2160-70 (2002)
DOI:10.1097/01.ASN.0000023430.92674.E5

(marker)

McPhee SJ, Papadakis MA (ed).

Current Medical Diagnosis & Treatment 2010, Forty-Ninth Edition

The McGraw-Hill Companies, Inc. (2010)

PMID:17657093 (drug)

Al-Ibrahim A, Al-Harbi M, Al-Musallam S

Paralysis Episodes in Carbonic Anhydrase II Deficiency.

Saudi J Kidney Dis Transpl 14:70-4 (2003)