| H00241 | |
| H number | H00241 |
| Name | Combined proximal and distal renal tubular acidosis (RTA type 3) |
| Description | 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. |
| Category | Urinary system disease |
| Network | - |
| Gene | CA2 [HSA:760] [KO:K18245] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Sodium bicarbonate [DR:D01203] |
| Comment | - |
| Other DBs | ICD-11: GB90.44 ICD-10: N25.8 MeSH: D000141 OMIM: 259730 |
| Reference | PMID:11045400 AUTHORS Rodriguez-Soriano J TITLE New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies. JOURNAL Pediatr Nephrol 14:1121-36 (2000) DOI:10.1007/s004670000407 PMID:17557941 AUTHORS Fry AC, Karet FE TITLE Inherited renal acidoses. JOURNAL Physiology (Bethesda) 22:202-11 (2007) DOI:10.1152/physiol.00044.2006 PMID:12138150 (CA2) AUTHORS Rodriguez Soriano J TITLE Renal tubular acidosis: the clinical entity. JOURNAL J Am Soc Nephrol 13:2160-70 (2002) DOI:10.1097/01.ASN.0000023430.92674.E5 PMID:12566520 (CA2) AUTHORS Borthwick KJ, Kandemir N, Topaloglu R, Kornak U, Bakkaloglu A, Yordam N, Ozen S, Mocan H, Shah GN, Sly WS, Karet FE TITLE A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. JOURNAL J Med Genet 40:115-21 (2003) DOI:10.1136/jmg.40.2.115 |