| H00603 | |
| H番号 | H00603 |
| 名称 | 妊娠誘発性高血圧症 |
| 概要 | "Hypertension exacerbated by pregnancy" is a syndrome similar to Apparent mineralocorticoid excess (AME) with autosomal dominant early-onset hypertension. The affected individuals have a gain of function mutation in the human mineralocorticoid receptor (MR), resulting in constitutively stimulated Na reabsorption. Hypertension is present in nonpregnant patients and may be severe, but the characteristic feature is marked worsening during pregnancy. The proposed explanation is that the mutation renders the receptor sensitive to nonmineralocorticoid steroids such as progesterone, the level of which rises 100-fold during pregnancy. |
| カテゴリ | 循環器系疾患 |
| ネットワーク | - |
| 病因遺伝子 | NR3C2 [HSA:4306] [KO:K08555] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | グルタチオン [DR:D00014] ヒドララジン塩酸塩 [DR:D01302] |
| コメント | - |
| リンク | ICD-11: BA04 ICD-10: I15.8 OMIM: 605115 |
| 文献 | PMID:17647025 著者 Vehaskari VM タイトル Heritable forms of hypertension. 雑誌 Pediatr Nephrol 24:1929-37 (2009) DOI:10.1007/s00467-007-0537-8 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:12538613 著者 Rafestin-Oblin ME, Souque A, Bocchi B, Pinon G, Fagart J, Vandewalle A タイトル The severe form of hypertension caused by the activating S810L mutation in the mineralocorticoid receptor is cortisone related. 雑誌 Endocrinology 144:528-33 (2003) DOI:10.1210/en.2002-220708 |