H00242 | |
H番号 | H00242 |
名称 | リドル症候群 |
概要 | Liddle syndrome (LIDLS) is a rare form of autosomal dominant hypertension characterized by hypokalemic metabolic alkalosis, low-renin activity, and suppressed aldosterone secretion. The mutations in the epithelial Na+ channel gene cause failure of the protein endocytosis and accumulation of active channels at the cell surface, leading persistent absorption of Na+ and resulting in large blood volume and high blood pressure. |
カテゴリ | 循環器系疾患 |
ネットワーク | - |
病因遺伝子 | (LIDLS1) SCNN1B [HSA:6338] [KO:K04825] (LIDLS2) SCNN1G [HSA:6340] [KO:K04827] (LIDLS3) SCNN1A [HSA:6337] [KO:K04824] |
病原体 | - |
環境要因 | - |
発癌物質 | - |
治療薬 | - |
コメント | - |
リンク | ICD-11: BA04 ICD-10: I15.2 OMIM: 177200 618114 618126 |
文献 | PMID:19007435 著者 Rotin D タイトル Role of the UPS in Liddle syndrome. 雑誌 BMC Biochem 9 Suppl 1:S5 (2008) DOI:10.1186/1471-2091-9-S1-S5 PMID:15980941 著者 Lang F, Capasso G, Schwab M, Waldegger S タイトル Renal tubular transport and the genetic basis of hypertensive disease. 雑誌 Clin Exp Nephrol 9:91-9 (2005) DOI:10.1007/s10157-005-0355-x PMID:11780687 著者 Warnock DG タイトル Liddle syndrome: genetics and mechanisms of Na+ channel defects. 雑誌 Am J Med Sci 322:302-7 (2001) DOI:10.1097/00000441-200112000-00002 PMID:28710092 著者 Salih M, Gautschi I, van Bemmelen MX, Di Benedetto M, Brooks AS, Lugtenberg D, Schild L, Hoorn EJ タイトル A Missense Mutation in the Extracellular Domain of alphaENaC Causes Liddle Syndrome. 雑誌 J Am Soc Nephrol 28:3291-3299 (2017) DOI:10.1681/ASN.2016111163 |