| H00901 | |
| H番号 | H00901 |
| 名称 | シスチン尿症 |
| 概要 | Cystinuria is an inherited disorder of re-absorptive transport of cystine and the dibasic amino acids ornithine, arginine and lysine in the proximal tubule and small intestine. Diagnostically, urinary levels of dibasic amino acids lysine, arginine, and ornithine, and most prominently, of cystine are constantly elevated. Plasma levels of these amino acids in general are at the lower end of the normal range. Patients with cystinuria often present with nephro- or urolithiasis at almost at any age with a clear preference in childhood due to elevated urinary cystine. Early diagnosis is important, as it allows prevention or diminution of kidney stones. Mutations in either interacting subunit SLC3A1 (rBAT) or SLC7A9 (b0,+AT) cause cystinuria. Cystinuria due to mutations in SLC3A1 is an autosomal recessive trait, whereas mutations in SLC7A9 can be seen as an autosomal dominant trait. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | SLC3A1 [HSA:6519] [KO:K14210] SLC7A9 [HSA:11136] [KO:K13868] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | チオプロニン [DR:D01430] |
| コメント | - |
| リンク | ICD-11: 5C60.2 ICD-10: E72.0 MeSH: D003555 OMIM: 220100 |
| 文献 | PMID:18781961 著者 Martens K, Jaeken J, Matthijs G, Creemers JW タイトル Multi-system disorder syndromes associated with cystinuria type I. 雑誌 Curr Mol Med 8:544-50 (2008) DOI:10.2174/156652408785747997 PMID:21308987 著者 Sebastio G, Sperandeo MP, Andria G タイトル Lysinuric protein intolerance: reviewing concepts on a multisystem disease. 雑誌 Am J Med Genet C Semin Med Genet 157:54-62 (2011) DOI:10.1002/ajmg.c.30287 PMID:15635077 (SLC3A1, SLC7A9) 著者 Font-Llitjos M, Jimenez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacin M, Nunes V タイトル New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. 雑誌 J Med Genet 42:58-68 (2005) DOI:10.1136/jmg.2004.022244 |