KEGG   DISEASE: Primary aldosteronismHelp
Entry
H01603                      Disease                                

Name
Primary aldosteronism
  Subgroup
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)
Description
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.
Category
Endocrine disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Adrenal gland diseases
   H01603  Primary aldosteronism
Human diseases in ICD-11 classification [BR:br08403]
 4. Endocrine, nutritional and metabolic diseases (E00-E90)
  E20-E35  Disorders of other endocrine glands
   E26  Hyperaldosteronism
    H01603  Primary aldosteronism
BRITE hierarchy
Pathway
hsa04020  Calcium signaling pathway
hsa04924  Renin secretion
hsa04960  Aldosterone-regulated sodium reabsorption
hsa04261  Adrenergic signaling in cardiomyocytes
Network
N00302  Mutation-activated CACNA1D/H to angiotensin-aldosterone signaling pathway
N00303  Mutation-activated KCNJ5 to angiotensin-aldosterone signaling pathway
N00304  Mutation-inactivated ATP1A1 to angiotensin-aldosterone signaling pathway
N00305  Mutation-inactivated ATP2B3 to angiotensin-aldosterone signaling pathway
Gene
(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]
Drug
Spironolactone [DR:D00443]
Other DBs
ICD-11: 5A72.0
ICD-10: E26.0
MeSH: D006929
OMIM: 103900 613677 617027 615474
Reference
  Authors
Mattsson C, Young WF Jr
  Title
Primary aldosteronism: diagnostic and treatment strategies.
  Journal
Nat Clin Pract Nephrol 2:198-208; quiz, 1 p following 230 (2006)
DOI:10.1038/ncpneph0151
Reference
  Authors
Korah HE, Scholl UI
  Title
An Update on Familial Hyperaldosteronism.
  Journal
Horm Metab Res 47:941-6 (2015)
DOI:10.1055/s-0035-1564166
Reference
  Authors
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
  Title
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.
  Journal
Nat Genet 45:1050-4 (2013)
DOI:10.1038/ng.2695
Reference
  Authors
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
  Title
Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma.
  Journal
Hypertension 64:354-61 (2014)
DOI:10.1161/HYPERTENSIONAHA.114.03419
Reference
  Authors
Mulatero P, Monticone S, Rainey WE, Veglio F, Williams TA
  Title
Role of KCNJ5 in familial and sporadic primary aldosteronism.
  Journal
Nat Rev Endocrinol 9:104-12 (2013)
DOI:10.1038/nrendo.2012.230
Reference
PMID:25538205 (marker)
  Authors
Piaditis G, Markou A, Papanastasiou L, Androulakis II, Kaltsas G
  Title
Progress in aldosteronism: a review of the prevalence of primary aldosteronism in pre-hypertension and hypertension.
  Journal
Eur J Endocrinol 172:R191-203 (2015)
DOI:10.1530/EJE-14-0537
Reference
PMID:17018542 (drug)
  Authors
Karagiannis A, Tziomalos K, Kakafika A, Florentin M, Athyros VG
  Title
Eplerenone relieves spironolactone-induced painful gynaecomastia in a patient with primary aldosteronism.
  Journal
Nephrol Dial Transplant 22:293 (2007)
DOI:10.1093/ndt/gfl500
Reference
  Authors
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
  Title
Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.
  Journal
Elife 4:e06315 (2015)
DOI:10.7554/eLife.06315

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