KEGG   DISEASE: 妊娠誘発性高血圧症
エントリ  
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
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 11 循環器系の疾患
  高血圧性疾患
   BA04  二次性高血圧
    H00603  妊娠誘発性高血圧症
パスウェイ 
hsa04960  Aldosterone-regulated sodium reabsorption
病因遺伝子 
NR3C2 [HSA:4306] [KO:K08555]
治療薬   
ヒドララジン塩酸塩 [DR:D01302]
グルタチオン [DR:D00014]
リンク   
ICD-11: BA04
OMIM: 605115
文献    
  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
文献    
  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
文献    
  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
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