| H00602 | |
| H番号 | H00602 |
| 名称 | 糖質コルチコイド反応性アルドステロン症; 家族性高アルドステロン症 I 型 |
| 概要 | Glucocorticoid-remediable aldosteronism (GRA), also known as familial hypoaldosteronism type I, is an autosomal dominant disease that causes hypertension, hypokalemia, decreased plasma renin activity and increased aldosterone levels. GRA is caused by a chimeric gene that links the 11 [beta]-hydroxylase promoter sequence to the aldosterone synthase gene's coding region. As a result, aldosterone is ectopically synthesized in the cortisol-secreting zona fasciculata of the adrenal gland under the control of adrenocorticotropin (ACTH). The high levels of mineralocorticoids activate the mineralocorticoid receptor (MR) and upregulate Na reabsorption and K secretion. Most individuals have severe hypertension since infancy but milder phenotypes have been described. |
| カテゴリ | 内分泌代謝疾患 |
| ネットワーク | nt06310(H00602) CRH-ACTH-cortisol signaling |
| 病因遺伝子 | CYP11B1 [HSA:1584] [KO:K00497] CYP11B2 [HSA:1585] [KO:K07433] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5A72.0 ICD-10: E26.0 I15.2 MeSH: C563177 OMIM: 103900 |
| 文献 | PMID:21404100 著者 Simonetti GD, Mohaupt MG, Bianchetti MG タイトル Monogenic forms of hypertension. 雑誌 Eur J Pediatr 171:1433-9 (2012) DOI:10.1007/s00431-011-1440-7 PMID:17496764 著者 Williams SS タイトル Advances in genetic hypertension. 雑誌 Curr Opin Pediatr 19:192-8 (2007) DOI:10.1097/MOP.0b013e32801e217c PMID:17262198 著者 Rosskopf D, Schurks M, Rimmbach C, Schafers R タイトル Genetics of arterial hypertension and hypotension. 雑誌 Naunyn Schmiedebergs Arch Pharmacol 374:429-69 (2007) DOI:10.1007/s00210-007-0133-2 PMID:15761539 著者 McMahon GT, Dluhy RG タイトル Glucocorticoid-remediable aldosteronism. 雑誌 Arq Bras Endocrinol Metabol 48:682-6 (2004) DOI:10.1590/S0004-27302004000500014 PMID:11004715 著者 Torpy DJ, Stratakis CA, Chrousos GP タイトル Familial hyperaldosteronism. 雑誌 Braz J Med Biol Res 33:1149-55 (2000) DOI:10.1590/S0100-879X2000001000004 |