| H00428 | |
| H番号 | H00428 |
| 名称 | 尿細管性アシドーシス I 型 (遠位型) |
| 概要 | Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. The distal type of RTA (dRTA) arises when the collecting duct fails to remove excess acid into the urine and is characterized by the inability to lower urine pH maximally (below 5.5) in the face of spontaneous acidemia or after acid loading. Autosomal-dominant and -recessive forms of dRTA are caused by mutations in ion transporters of the acid-secreting Type A intercalated cell of the renal collecting duct. These include the AE1 Cl-/HCO3- exchanger of the basolateral membrane and at least two subunits of the apical membrane vacuolar (v)H+-ATPase, the V1 subunit B1 (associated with deafness) and the V0 subunit a4. |
| カテゴリ | 泌尿器系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (DRTA1/DRTA4) SLC4A1 [HSA:6521] [KO:K06573] (DRTA2) ATP6V1B1 [HSA:525] [KO:K02147] (DRTA3) ATP6V0A4 [HSA:50617] [KO:K02154] |
| 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: 179800 267300 602722 611590 |
| 文献 | PMID:19721811 著者 Pereira PC, Miranda DM, Oliveira EA, Silva AC タイトル Molecular pathophysiology of renal tubular acidosis. 雑誌 Curr Genomics 10:51-9 (2009) DOI:10.2174/138920209787581262 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 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:9312167 (DRTA1) 著者 Bruce LJ, Cope DL, Jones GK, Schofield AE, Burley M, Povey S, Unwin RJ, Wrong O, Tanner MJ タイトル Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. 雑誌 J Clin Invest 100:1693-707 (1997) DOI:10.1172/JCI119694 PMID:9916796 (DRTA2) 著者 Karet FE, Finberg KE, Nelson RD, Nayir A, Mocan H, Sanjad SA, Rodriguez-Soriano J, Santos F, Cremers CW, Di Pietro A, Hoffbrand BI, Winiarski J, Bakkaloglu A, Ozen S, Dusunsel R, Goodyer P, Hulton SA, Wu DK, Skvorak AB, Morton CC, Cunningham MJ, Jha V, Lifton RP タイトル Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. 雑誌 Nat Genet 21:84-90 (1999) DOI:10.1038/5022 PMID:10973252 (DRTA3) 著者 Smith AN, Skaug J, Choate KA, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Lifton RP, Scherer SW, Karet FE タイトル Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. 雑誌 Nat Genet 26:71-5 (2000) DOI:10.1038/79208 PMID:9854053 (DRTA4) 著者 Tanphaichitr VS, Sumboonnanonda A, Ideguchi H, Shayakul C, Brugnara C, Takao M, Veerakul G, Alper SL タイトル Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A. 雑誌 J Clin Invest 102:2173-9 (1998) DOI:10.1172/JCI4836 |