KEGG DISEASE: Primary aldosteronism

DISEASE: Primary aldosteronism

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 and metabolic disease

Brite

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
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06528  Calcium signaling
   H01603  Primary aldosteronism
Endocrine system
  nt06316  Renin-angiotensin-aldosterone signaling
   H01603  Primary aldosteronism

Pathway

hsa04020

Calcium signaling pathway

Network

nt06316 Renin-angiotensin-aldosterone signaling
nt06528 Calcium signaling

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

PMID:16932426

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

PMID:26445452

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

PMID:23913001

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

PMID:24866132

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

PMID:23229280

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

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

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

PMID:25907736

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

» Japanese version

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   KEGG VARIANT (5)   
Disease (4)   
   OMIM (4)   
Drug (3)   
   KEGG DRUG (3)   
Gene (12)   
   KEGG ORTHOLOGY (6)   
   KEGG GENES (6)   
Literature (8)   
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