| H00429 | |
| H number | H00429 |
| Name | Proximal renal tubular acidosis (RTA type 2) |
| Description | 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. |
| Category | Urinary system disease |
| Network | - |
| Gene | SLC4A4 [HSA:8671] [KO:K13575] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Sodium bicarbonate [DR:D01203] |
| Comment | - |
| Other DBs | ICD-11: GB90.44 ICD-10: N25.8 MeSH: D000141 OMIM: 604278 |
| 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 (SLC4A4) 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:10545938 (SLC4A4) AUTHORS Igarashi T, Inatomi J, Sekine T, Cha SH, Kanai Y, Kunimi M, Tsukamoto K, Satoh H, Shimadzu M, Tozawa F, Mori T, Shiobara M, Seki G, Endou H TITLE Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. JOURNAL Nat Genet 23:264-6 (1999) DOI:10.1038/15440 |