| H00241 | |
| H番号 | H00241 |
| 名称 | 尿細管性アシドーシス III 型 |
| 概要 | 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. |
| カテゴリ | 泌尿器系疾患 |
| ネットワーク | - |
| 病因遺伝子 | CA2 [HSA:760] [KO:K18245] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: GB90.44 ICD-10: N25.8 MeSH: D000141 OMIM: 259730 |
| 文献 | PMID:11045400 著者 Rodriguez-Soriano J タイトル New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies. 雑誌 Pediatr Nephrol 14:1121-36 (2000) DOI:10.1007/s004670000407 PMID:17557941 著者 Fry AC, Karet FE タイトル Inherited renal acidoses. 雑誌 Physiology (Bethesda) 22:202-11 (2007) DOI:10.1152/physiol.00044.2006 PMID:12138150 (CA2) 著者 Rodriguez Soriano J タイトル Renal tubular acidosis: the clinical entity. 雑誌 J Am Soc Nephrol 13:2160-70 (2002) DOI:10.1097/01.ASN.0000023430.92674.E5 PMID:12566520 (CA2) 著者 Borthwick KJ, Kandemir N, Topaloglu R, Kornak U, Bakkaloglu A, Yordam N, Ozen S, Mocan H, Shah GN, Sly WS, Karet FE タイトル A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. 雑誌 J Med Genet 40:115-21 (2003) DOI:10.1136/jmg.40.2.115 |