| H00575 | |
| H番号 | H00575 |
| 名称 | 腎尿細管形成不全 |
| 概要 | Autosomal recessive renal tubular dysgenesis (RTD) is a rare lethal disorder characterized by the absence or incomplete differentiation of proximal tubules. Patients present persistent fetal anuria leading to oligohydramnios sequence. Homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1 may cause RTD. These genes are renin-angiotensin system components which regulate renal growth during embryogenesis. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | REN [HSA:5972] [KO:K01380] AGT [HSA:183] [KO:K09821] ACE [HSA:1636] [KO:K01283] AGTR1 [HSA:185] [KO:K04166] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LB30.3 ICD-10: Q63.8 MeSH: C537048 OMIM: 267430 |
| 文献 | PMID:20969579 著者 Benoit G, Machuca E, Heidet L, Antignac C タイトル Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes. 雑誌 Ann N Y Acad Sci 1214:83-98 (2010) DOI:10.1111/j.1749-6632.2010.05817.x PMID:19924102 著者 Gubler MC, Antignac C タイトル Renin-angiotensin system in kidney development: renal tubular dysgenesis. 雑誌 Kidney Int 77:400-6 (2010) DOI:10.1038/ki.2009.423 PMID:16116425 著者 Gribouval O, Gonzales M, Neuhaus T, Aziza J, Bieth E, Laurent N, Bouton JM, Feuillet F, Makni S, Ben Amar H, Laube G, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC タイトル Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. 雑誌 Nat Genet 37:964-8 (2005) DOI:10.1038/ng1623 PMID:8023970 著者 Tufro-McReddie A, Johns DW, Geary KM, Dagli H, Everett AD, Chevalier RL, Carey RM, Gomez RA タイトル Angiotensin II type 1 receptor: role in renal growth and gene expression during normal development. 雑誌 Am J Physiol 266:F911-8 (1994) DOI:10.1152/ajprenal.1994.266.6.F911 |