| H00603 | |
| H number | H00603 |
| Name | Hypertension exacerbated in pregnancy |
| Description | "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. |
| Category | Cardiovascular disease |
| Network | - |
| Gene | NR3C2 [HSA:4306] [KO:K08555] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: BA04 ICD-10: I15.8 OMIM: 605115 |
| Reference | PMID:17647025 AUTHORS Vehaskari VM TITLE Heritable forms of hypertension. JOURNAL Pediatr Nephrol 24:1929-37 (2009) DOI:10.1007/s00467-007-0537-8 PMID:17262198 AUTHORS Rosskopf D, Schurks M, Rimmbach C, Schafers R TITLE Genetics of arterial hypertension and hypotension. JOURNAL Naunyn Schmiedebergs Arch Pharmacol 374:429-69 (2007) DOI:10.1007/s00210-007-0133-2 PMID:12538613 AUTHORS Rafestin-Oblin ME, Souque A, Bocchi B, Pinon G, Fagart J, Vandewalle A TITLE The severe form of hypertension caused by the activating S810L mutation in the mineralocorticoid receptor is cortisone related. JOURNAL Endocrinology 144:528-33 (2003) DOI:10.1210/en.2002-220708 |