KEGG   DISEASE: Primary aldosteronism
H01603                      Disease                                
Primary aldosteronism
Familial hyperaldosteronism type I [DS:H00602]
Familial hyperaldosteronism type II
Familial hyperaldosteronism type III
Familial hyperaldosteronism type VI
Primary aldosteronism with seizures and neurologic abnormalities (PASNA)
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.
Endocrine disease
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Adrenal gland diseases
   H01603  Primary aldosteronism
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the adrenal glands or adrenal hormone system
    5A72  Hyperaldosteronism
     H01603  Primary aldosteronism
hsa04925  Aldosterone synthesis and secretion
hsa04020  Calcium signaling pathway
hsa04929  GnRH secretion
hsa04261  Adrenergic signaling in cardiomyocytes
nt06316  Angiotensin-aldosterone signaling
(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]
Spironolactone [DR:D00443]
Other DBs
ICD-11: 5A72.0
ICD-10: E26.0
MeSH: D006929
OMIM: 103900 613677 617027 615474
Mattsson C, Young WF Jr
Primary aldosteronism: diagnostic and treatment strategies.
Nat Clin Pract Nephrol 2:198-208; quiz, 1 p following 230 (2006)
Korah HE, Scholl UI
An Update on Familial Hyperaldosteronism.
Horm Metab Res 47:941-6 (2015)
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
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.
Nat Genet 45:1050-4 (2013)
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
Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma.
Hypertension 64:354-61 (2014)
Mulatero P, Monticone S, Rainey WE, Veglio F, Williams TA
Role of KCNJ5 in familial and sporadic primary aldosteronism.
Nat Rev Endocrinol 9:104-12 (2013)
Piaditis G, Markou A, Papanastasiou L, Androulakis II, Kaltsas G
Progress in aldosteronism: a review of the prevalence of primary aldosteronism in pre-hypertension and hypertension.
Eur J Endocrinol 172:R191-203 (2015)
Karagiannis A, Tziomalos K, Kakafika A, Florentin M, Athyros VG
Eplerenone relieves spironolactone-induced painful gynaecomastia in a patient with primary aldosteronism.
Nephrol Dial Transplant 22:293 (2007)
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
Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.
Elife 4:e06315 (2015)

» Japanese version

DBGET integrated database retrieval system