KEGG   DISEASE: H00603Help
Entry
H00603                      Disease                                

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
BRITE hierarchy
Pathway
Aldosterone-regulated sodium reabsorption
Gene
NR3C2 [HSA:4306] [KO:K08555]
Other DBs
ICD-10: 
OMIM: 
Reference
PMID:17647025 (description, gene)
  Authors
Vehaskari VM
  Title
Heritable forms of hypertension.
  Journal
Pediatr Nephrol 24:1929-37 (2009)
Reference
PMID:17262198 (description, gene)
  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)
Reference
PMID:12538613 (gene)
  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)

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