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Decreased circulating aldosterone level

MedGen UID:
208996
Concept ID:
C0857899
Finding
Synonym: Hypoaldosteronism
 
HPO: HP:0004319
Monarch Initiative: MONDO:0015900
Orphanet: ORPHA181419

Definition

Abnormally reduced levels of aldosterone. [from HPO]

Conditions with this feature

Polyglandular autoimmune syndrome, type 1
MedGen UID:
39125
Concept ID:
C0085859
Disease or Syndrome
Autoimmune polyglandular syndrome type I is characterized by the presence of 2 of 3 major clinical symptoms: Addison disease, and/or hypoparathyroidism, and/or chronic mucocutaneous candidiasis (Neufeld et al., 1981). However, variable APS1 phenotypes have been observed, even among sibs. In addition, some patients may exhibit apparent isolated hypoparathyroidism, an early manifestation of APS1 with peak incidence at around age 5 years; over longterm follow-up, the development of additional features of APS1 may be observed (Cranston et al., 2022).
Liddle syndrome
MedGen UID:
67439
Concept ID:
C0221043
Disease or Syndrome
Liddle syndrome is an inherited form of high blood pressure (hypertension). This condition is characterized by severe hypertension that begins unusually early in life, often in childhood, although some affected individuals are not diagnosed until adulthood. Some people with Liddle syndrome have no additional signs or symptoms, especially in childhood. Over time, however, untreated hypertension can lead to heart disease or stroke, which may be fatal.\n\nIn addition to hypertension, affected individuals can have low levels of potassium in the blood (hypokalemia). Signs and symptoms of hypokalemia include muscle weakness or pain, fatigue, constipation, or heart palpitations. The shortage of potassium can also raise the pH of the blood, a condition known as metabolic alkalosis.
Deficiency of steroid 11-beta-monooxygenase
MedGen UID:
82783
Concept ID:
C0268292
Disease or Syndrome
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is an autosomal recessive disorder of corticosteroid biosynthesis resulting in androgen excess, virilization, and hypertension. The defect causes decreased synthesis of cortisol and corticosterone in the zona fasciculata of the adrenal gland, resulting in accumulation of the precursors 11-deoxycortisol and 11-deoxycorticosterone; the latter is a potent salt-retaining mineralocorticoid that leads to arterial hypertension (White et al., 1991). CAH due to 11-beta-hydroxylase deficiency accounts for approximately 5 to 8% of all CAH cases; approximately 90% of cases are caused by 21-hydroxylase deficiency (201910) (White et al., 1991).
Corticosterone 18-monooxygenase deficiency
MedGen UID:
82784
Concept ID:
C0268293
Disease or Syndrome
CMO type I deficiency is an autosomal recessive disorder caused by a defect in the penultimate biochemical step of aldosterone biosynthesis, the 18-hydroxylation of corticosterone (B) to 18-hydroxycorticosterone (18-OHB). This enzymatic defect results in decreased aldosterone and salt-wasting. In CMO I deficiency, aldosterone is undetectable, whereas its immediate precursor, 18-OHB, is low or normal. These patients have an increased ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998). The CYP11B2 gene product also catalyzes the final step in aldosterone biosynthesis: the 18-oxidation of 18-OHB to aldosterone. A defect in that enzymatic step results in CMO type II deficiency (610600), an allelic disorder with an overlapping phenotype but distinct biochemical features. In CMO II deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-OHB. These patients have a low ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998).
Glucocorticoid deficiency with achalasia
MedGen UID:
82889
Concept ID:
C0271742
Disease or Syndrome
Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima. Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from the throat to the stomach. It can lead to severe feeding difficulties and low blood glucose (hypoglycemia). Addison disease, also known as primary adrenal insufficiency, is caused by abnormal function of the small hormone-producing glands on top of each kidney (adrenal glands). The main features of Addison disease include fatigue, loss of appetite, weight loss, low blood pressure, and darkening of the skin. The third major feature of triple A syndrome is a reduced or absent ability to secrete tears (alacrima). Most people with triple A syndrome have all three of these features, although some have only two.\n\nMany of the features of triple A syndrome are caused by dysfunction of the autonomic nervous system. This part of the nervous system controls involuntary body processes such as digestion, blood pressure, and body temperature. People with triple A syndrome often experience abnormal sweating, difficulty regulating blood pressure, unequal pupil size (anisocoria), and other signs and symptoms of autonomic nervous system dysfunction (dysautonomia).\n\nPeople with this condition may have other neurological abnormalities, such as developmental delay, intellectual disability, speech problems (dysarthria), and a small head size (microcephaly). In addition, affected individuals commonly experience muscle weakness, movement problems, and nerve abnormalities in their extremities (peripheral neuropathy). Some develop optic atrophy, which is the degeneration (atrophy) of the nerves that carry information from the eyes to the brain. Many of the neurological symptoms of triple A syndrome worsen over time.\n\nPeople with triple A syndrome frequently develop a thickening of the outer layer of skin (hyperkeratosis) on the palms of their hands and the soles of their feet. Other skin abnormalities may also be present in people with this condition.\n\nAlacrima is usually the first noticeable sign of triple A syndrome, as it becomes apparent early in life that affected children produce little or no tears while crying. They develop Addison disease and achalasia during childhood or adolescence, and most of the neurologic features of triple A syndrome begin during adulthood. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
Congenital adrenal hypoplasia, X-linked
MedGen UID:
87442
Concept ID:
C0342482
Disease or Syndrome
NR0B1-related adrenal hypoplasia congenita includes both X-linked adrenal hypoplasia congenita (X-linked AHC) and Xp21 deletion (previously called complex glycerol kinase deficiency). X-linked AHC is characterized by primary adrenal insufficiency and/or hypogonadotropic hypogonadism (HH). Adrenal insufficiency is acute infantile onset (average age 3 weeks) in approximately 60% of affected males and childhood onset (ages 1-9 years) in approximately 40%. HH typically manifests in a male with adrenal insufficiency as delayed puberty (i.e., onset age >14 years) and less commonly as arrested puberty at about Tanner Stage 3. Rarely, X-linked AHC manifests initially in early adulthood as delayed-onset adrenal insufficiency, partial HH, and/or infertility. Heterozygous females very occasionally have manifestations of adrenal insufficiency or hypogonadotropic hypogonadism. Xp21 deletion includes deletion of NR0B1 (causing X-linked AHC) and GK (causing glycerol kinase deficiency), and in some cases deletion of DMD (causing Duchenne muscular dystrophy). Developmental delay has been reported in males with Xp21 deletion when the deletion extends proximally to include DMD or when larger deletions extend distally to include IL1RAPL1 and DMD.
Apparent mineralocorticoid excess
MedGen UID:
90983
Concept ID:
C0342488
Disease or Syndrome
Apparent mineralocorticoid excess (AME) is an autosomal recessive form of low-renin hypertension associated with low aldosterone, metabolic alkalosis, hypernatremia, and hypokalemia. The disorder is due to a congenital defect in 11-beta-hydroxysteroid dehydrogenase type II (HSD11B2) activity, resulting in decreased conversion of biologically active cortisol to inactive cortisone; this defect allows cortisol to act as a ligand for the mineralocorticoid receptor, resulting in sodium retention and volume expansion. There is a favorable therapeutic response to spironolactone (review by Ferrari, 2010).
Pseudohyperaldosteronism type 2
MedGen UID:
343170
Concept ID:
C1854631
Disease or Syndrome
Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery.
Corticosterone methyloxidase type 2 deficiency
MedGen UID:
483046
Concept ID:
C3463917
Disease or Syndrome
CMO type II deficiency is an autosomal recessive disorder caused by a defect in the final biochemical step of aldosterone biosynthesis, the 18-hydroxylation of 18-hydroxycorticosterone (18-OHB) to aldosterone. This enzymatic defect results in decreased aldosterone and salt-wasting associated with an increased serum ratio of 18-OHB to aldosterone. In CMO II deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-OHB. These patients have a low ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998). The CYP11B2 gene product also catalyzes an earlier step in aldosterone biosynthesis: the 18-hydroxylation of corticosterone to 18-OHB. A defect in that enzymatic step results in CMO type I deficiency (204300), an allelic disorder with an overlapping phenotype but distinct biochemical features. In CMO I deficiency, aldosterone is undetectable, whereas its immediate precursor, 18-OHB, is low or normal (Portrat-Doyen et al., 1998).
Liddle syndrome 2
MedGen UID:
1648476
Concept ID:
C4748251
Disease or Syndrome
Liddle syndrome is an autosomal dominant form of hypertension characterized by early onset of hypertension associated with hypokalemia, suppressed plasma renin activity, and suppressed secretion of the mineralocorticoid hormone aldosterone (summary by Hansson et al., 1995). For a general phenotypic description and a discussion of genetic heterogeneity of Liddle syndrome, see 177200.
Liddle syndrome 3
MedGen UID:
1648443
Concept ID:
C4748292
Disease or Syndrome
Liddle syndrome, or pseudoaldosteronism, is an autosomal dominant form of salt-sensitive hypertension characterized by suppressed plasma renin and aldosterone, hypokalemia, and metabolic alkalosis (summary by Salih et al., 2017). For a discussion of genetic heterogeneity of Liddle syndrome, see 177200.

Professional guidelines

PubMed

Yozamp N, Hundemer GL, Moussa M, Underhill J, Fudim T, Sacks B, Vaidya A
Am J Hypertens 2021 Feb 18;34(1):34-45. doi: 10.1093/ajh/hpaa151. PMID: 33179734Free PMC Article
Briasoulis A, Androulakis E, Christophides T, Tousoulis D
Heart Fail Rev 2016 Mar;21(2):169-76. doi: 10.1007/s10741-016-9533-z. PMID: 26872673
Roscioni SS, de Zeeuw D, Bakker SJ, Lambers Heerspink HJ
Nat Rev Nephrol 2012 Dec;8(12):691-9. Epub 2012 Oct 16 doi: 10.1038/nrneph.2012.217. PMID: 23070570

Recent clinical studies

Etiology

Liao TH, Wu HC, Liao MT, Hu WC, Tsai KW, Lin CC, Lu KC
Int J Mol Sci 2022 Sep 14;23(18) doi: 10.3390/ijms231810725. PMID: 36142634Free PMC Article
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Contraception 2022 Dec;116:59-65. Epub 2022 Sep 7 doi: 10.1016/j.contraception.2022.08.009. PMID: 36084710
Yin J, Wang S, Liu Y, Chen J, Li D, Xu T
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Gembillo G, Siligato R, Amatruda M, Conti G, Santoro D
Medicina (Kaunas) 2021 Feb 22;57(2) doi: 10.3390/medicina57020186. PMID: 33671780Free PMC Article
Hubers SA, Brown NJ
Circulation 2016 Mar 15;133(11):1115-24. doi: 10.1161/CIRCULATIONAHA.115.018622. PMID: 26976916Free PMC Article

Diagnosis

Miao J, Bachmann KN, Huang S, Su YR, Dusek J, Newton-Cheh C, Arora P, Wang TJ
J Am Heart Assoc 2021 May 18;10(10):e017727. Epub 2021 May 7 doi: 10.1161/JAHA.120.017727. PMID: 33960201Free PMC Article
Yozamp N, Hundemer GL, Moussa M, Underhill J, Fudim T, Sacks B, Vaidya A
Am J Hypertens 2021 Feb 18;34(1):34-45. doi: 10.1093/ajh/hpaa151. PMID: 33179734Free PMC Article
Burrello J, Gai C, Tetti M, Lopatina T, Deregibus MC, Veglio F, Mulatero P, Camussi G, Monticone S
Hypertension 2019 Aug;74(2):359-367. Epub 2019 Jun 24 doi: 10.1161/HYPERTENSIONAHA.119.12944. PMID: 31230554
Hubers SA, Brown NJ
Circulation 2016 Mar 15;133(11):1115-24. doi: 10.1161/CIRCULATIONAHA.115.018622. PMID: 26976916Free PMC Article
Gattoni A, Marotta F, Vangieri B, Pisani G, Cristiano F
Clin Ter 2004 Sep;155(9):375-89. PMID: 15700631

Therapy

Ravindran S, Munusamy S
J Cell Physiol 2022 Feb;237(2):1182-1205. Epub 2021 Oct 29 doi: 10.1002/jcp.30621. PMID: 34713897
Gembillo G, Siligato R, Amatruda M, Conti G, Santoro D
Medicina (Kaunas) 2021 Feb 22;57(2) doi: 10.3390/medicina57020186. PMID: 33671780Free PMC Article
Hubers SA, Brown NJ
Circulation 2016 Mar 15;133(11):1115-24. doi: 10.1161/CIRCULATIONAHA.115.018622. PMID: 26976916Free PMC Article
Lyngsø KS, Assersen K, Dalgaard EG, Skott O, Jensen BL, Hansen PB
J Cardiovasc Pharmacol 2016 Jul;68(1):1-10. doi: 10.1097/FJC.0000000000000345. PMID: 26657712
Hajjar I, Hart M, Mack W, Lipsitz LA
Am J Hypertens 2015 Mar;28(3):319-25. Epub 2014 Sep 11 doi: 10.1093/ajh/hpu161. PMID: 25213687Free PMC Article

Prognosis

Wang K, Basu R, Poglitsch M, Bakal JA, Oudit GY
Circ Heart Fail 2020 Jul;13(7):e006939. Epub 2020 Jun 25 doi: 10.1161/CIRCHEARTFAILURE.120.006939. PMID: 32580658
Hubers SA, Brown NJ
Circulation 2016 Mar 15;133(11):1115-24. doi: 10.1161/CIRCULATIONAHA.115.018622. PMID: 26976916Free PMC Article
Briasoulis A, Androulakis E, Christophides T, Tousoulis D
Heart Fail Rev 2016 Mar;21(2):169-76. doi: 10.1007/s10741-016-9533-z. PMID: 26872673
Goldfarb-Rumyantzev AS, Alper SL
Nephrol Dial Transplant 2014 Mar;29(3):497-506. Epub 2013 Mar 22 doi: 10.1093/ndt/gft051. PMID: 23525530Free PMC Article
Olsen NV
Acta Anaesthesiol Scand Suppl 1995;107:165-70. doi: 10.1111/j.1399-6576.1995.tb04352.x. PMID: 8599271

Clinical prediction guides

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J Clin Endocrinol Metab 2022 Nov 25;107(12):3242-3251. doi: 10.1210/clinem/dgac539. PMID: 36125178Free PMC Article
Maeoka Y, Su XT, Wang WH, Duan XP, Sharma A, Li N, Staub O, McCormick JA, Ellison DH
Hypertension 2022 Jul;79(7):1423-1434. Epub 2022 May 4 doi: 10.1161/HYPERTENSIONAHA.122.19159. PMID: 35506380Free PMC Article
Lyngsø KS, Assersen K, Dalgaard EG, Skott O, Jensen BL, Hansen PB
J Cardiovasc Pharmacol 2016 Jul;68(1):1-10. doi: 10.1097/FJC.0000000000000345. PMID: 26657712
Goldfarb-Rumyantzev AS, Alper SL
Nephrol Dial Transplant 2014 Mar;29(3):497-506. Epub 2013 Mar 22 doi: 10.1093/ndt/gft051. PMID: 23525530Free PMC Article
Adams KF Jr
Am J Health Syst Pharm 2004 May 1;61 Suppl 2:S4-13. doi: 10.1093/ajhp/61.suppl_2.S4. PMID: 15160833

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