KEGG   DISEASE: 原発性アルドステロン症
エントリ  
H01603                                                             
名称    
原発性アルドステロン症
  下位グループ
家族性高アルドステロン症 I 型 [DS:H00602]
家族性高アルドステロン症 II 型
家族性高アルドステロン症 III 型
家族性高アルドステロン症 VI 型
Primary aldosteronism with seizures and neurologic abnormalities (PASNA)
概要    
Primary aldosteronism is a clinical syndrome characterized by excess secretion of aldosterone from the adrenal gland. It is manifested by hypertension and hyporeninemia. In the past, hypokalemia was thought to be a mandatory finding in primary aldosteronism. However, later studies confirmed that most patients with primary aldosteronism are normokalemic. The prevalence of primary aldosteronism among nonselected hypertensive persons is between 5% and 13%, and it is now recognized to be the most common form of secondary hypertension. There are the seven subtypes of primary aldosteronism. Aldosterone-producing adenoma (APA) and bilateral idiopathic hyperaldosteronism (IHA) are the most common subtypes of primary aldosteronism. Unilateral adrenal hyperplasia, aldosterone-producing adrenocortical carcinoma, ectopic aldosterone-producing adenoma, and familial hyperaldosteronism (type I and typeII) are unusual subtypes. Somatic mutations in KCNJ5, ATP1A1, ATP2B3, and CACNA1D have been described in APAs. Usually, adenomas are managed surgically and bilateral hyperplasia, medically.
カテゴリ  
内分泌代謝疾患
階層分類  
ヒト疾患 [BR:jp08402]
 内分泌代謝疾患
  副腎疾患
   H01603  原発性アルドステロン症
ICD-11 による疾患分類 [BR:jp08403]
 05 内分泌, 栄養, 代謝の疾患
  内分泌疾患
   副腎または副腎ホルモン系の疾患
    5A72  アルドステロン症
     H01603  原発性アルドステロン症
関連パスウェイ
hsa04925  Aldosterone synthesis and secretion
hsa04020  Calcium signaling pathway
hsa04929  GnRH secretion
hsa04261  Adrenergic signaling in cardiomyocytes
ネットワーク
nt06316  Angiotensin-aldosterone signaling
病因遺伝子 
(HALD1) CYP11B1 [HSA:1584] [KO:K00497]
(HALD3) KCNJ5 [HSA:3762] [KO:K04999]
(HALD4) CACNA1H [HSA:8912] [KO:K04855]
(PASNA) CACNA1D [HSA:776] [KO:K04851]
ATP1A1 [HSA:476] [KO:K01539]
ATP2B3 [HSA:492] [KO:K05850]
治療薬   
スピロノラクトン [DR:D00443]
カンレノ酸カリウム [DR:D01943]
トリロスタン [DR:D01180]
リンク   
ICD-11: 5A72.0
ICD-10: E26.0
MeSH: D006929
OMIM: 103900 613677 617027 615474
文献    
  著者
Mattsson C, Young WF Jr
  タイトル
Primary aldosteronism: diagnostic and treatment strategies.
  雑誌
Nat Clin Pract Nephrol 2:198-208; quiz, 1 p following 230 (2006)
DOI:10.1038/ncpneph0151
文献    
  著者
Korah HE, Scholl UI
  タイトル
An Update on Familial Hyperaldosteronism.
  雑誌
Horm Metab Res 47:941-6 (2015)
DOI:10.1055/s-0035-1564166
文献    
  著者
Scholl UI, Goh G, Stolting G, de Oliveira RC, Choi M, Overton JD, Fonseca AL, Korah R, Starker LF, Kunstman JW, Prasad ML, Hartung EA, Mauras N, Benson MR, Brady T, Shapiro JR, Loring E, Nelson-Williams C, Libutti SK, Mane S, Hellman P, Westin G, Akerstrom G, Bjorklund P, Carling T, Fahlke C, Hidalgo P, Lifton RP
  タイトル
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.
  雑誌
Nat Genet 45:1050-4 (2013)
DOI:10.1038/ng.2695
文献    
  著者
Fernandes-Rosa FL, Williams TA, Riester A, Steichen O, Beuschlein F, Boulkroun S, Strom TM, Monticone S, Amar L, Meatchi T, Mantero F, Cicala MV, Quinkler M, Fallo F, Allolio B, Bernini G, Maccario M, Giacchetti G, Jeunemaitre X, Mulatero P, Reincke M, Zennaro MC
  タイトル
Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma.
  雑誌
Hypertension 64:354-61 (2014)
DOI:10.1161/HYPERTENSIONAHA.114.03419
文献    
  著者
Mulatero P, Monticone S, Rainey WE, Veglio F, Williams TA
  タイトル
Role of KCNJ5 in familial and sporadic primary aldosteronism.
  雑誌
Nat Rev Endocrinol 9:104-12 (2013)
DOI:10.1038/nrendo.2012.230
文献    
  著者
Piaditis G, Markou A, Papanastasiou L, Androulakis II, Kaltsas G
  タイトル
Progress in aldosteronism: a review of the prevalence of primary aldosteronism in pre-hypertension and hypertension.
  雑誌
Eur J Endocrinol 172:R191-203 (2015)
DOI:10.1530/EJE-14-0537
文献    
  著者
Karagiannis A, Tziomalos K, Kakafika A, Florentin M, Athyros VG
  タイトル
Eplerenone relieves spironolactone-induced painful gynaecomastia in a patient with primary aldosteronism.
  雑誌
Nephrol Dial Transplant 22:293 (2007)
DOI:10.1093/ndt/gfl500
文献    
  著者
Scholl UI, Stolting G, Nelson-Williams C, Vichot AA, Choi M, Loring E, Prasad ML, Goh G, Carling T, Juhlin CC, Quack I, Rump LC, Thiel A, Lande M, Frazier BG, Rasoulpour M, Bowlin DL, Sethna CB, Trachtman H, Fahlke C, Lifton RP
  タイトル
Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.
  雑誌
Elife 4:e06315 (2015)
DOI:10.7554/eLife.06315
LinkDB    

» English version

DBGET integrated database retrieval system