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Familial hyperaldosteronism

MedGen UID:
780028
Concept ID:
C3713420
Disease or Syndrome
Synonym: Genetic hyperaldosteronism
SNOMED CT: Familial hyperaldosteronism (703231005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Related genes: KCNJ5, CYP11B1, CLCN2
 
Monarch Initiative: MONDO:0016525
OMIM® Phenotypic series: PS103900
Orphanet: ORPHA235936

Definition

Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are small glands located on top of each kidney, produce too much of the hormone aldosterone. Aldosterone helps control the amount of salt retained by the kidneys. Excess aldosterone causes the kidneys to retain more salt than normal, which in turn increases the body's fluid levels and blood pressure. People with familial hyperaldosteronism may develop severe high blood pressure (hypertension), often early in life. Without treatment, hypertension increases the risk of strokes, heart attacks, and kidney failure.

Familial hyperaldosteronism is categorized into three types, distinguished by their clinical features and genetic causes. In familial hyperaldosteronism type I, hypertension generally appears in childhood to early adulthood and can range from mild to severe. This type can be treated with steroid medications called glucocorticoids, so it is also known as glucocorticoid-remediable aldosteronism (GRA). In familial hyperaldosteronism type II, hypertension usually appears in early to middle adulthood and does not improve with glucocorticoid treatment. In most individuals with familial hyperaldosteronism type III, the adrenal glands are enlarged up to six times their normal size. These affected individuals have severe hypertension that starts in childhood. The hypertension is difficult to treat and often results in damage to organs such as the heart and kidneys. Rarely, individuals with type III have milder symptoms with treatable hypertension and no adrenal gland enlargement.

There are other forms of hyperaldosteronism that are not familial. These conditions are caused by various problems in the adrenal glands or kidneys. In some cases, a cause for the increase in aldosterone levels cannot be found. [from MedlinePlus Genetics]

Professional guidelines

PubMed

Charoensri S, Auchus RJ
Eur J Endocrinol 2023 Nov 8;189(5):R11-R22. doi: 10.1093/ejendo/lvad140. PMID: 37847213
Dinh HA, Stölting G, Scholl UI
Handb Exp Pharmacol 2023;279:249-262. doi: 10.1007/164_2023_660. PMID: 37311830
Reincke M, Bancos I, Mulatero P, Scholl UI, Stowasser M, Williams TA
Lancet Diabetes Endocrinol 2021 Dec;9(12):876-892. doi: 10.1016/S2213-8587(21)00210-2. PMID: 34798068

Recent clinical studies

Etiology

Ekman N, Grossman AB, Dworakowska D
Int J Mol Sci 2024 Jan 11;25(2) doi: 10.3390/ijms25020900. PMID: 38255973Free PMC Article
Charoensri S, Auchus RJ
Eur J Endocrinol 2023 Nov 8;189(5):R11-R22. doi: 10.1093/ejendo/lvad140. PMID: 37847213
Marx SJ
Endocr Relat Cancer 2016 Jan;23(1):R1-14. Epub 2015 Sep 25 doi: 10.1530/ERC-15-0171. PMID: 26407873Free PMC Article
Vaidya A, Hamrahian AH, Auchus RJ
Endocr Pract 2015 Apr;21(4):400-5. Epub 2015 Feb 9 doi: 10.4158/EP14512.RA. PMID: 25667376Free PMC Article
Gordon RD
J Endocrinol Invest 1995 Jul-Aug;18(7):495-511. doi: 10.1007/BF03349761. PMID: 9221268

Diagnosis

Ekman N, Grossman AB, Dworakowska D
Int J Mol Sci 2024 Jan 11;25(2) doi: 10.3390/ijms25020900. PMID: 38255973Free PMC Article
Charoensri S, Auchus RJ
Eur J Endocrinol 2023 Nov 8;189(5):R11-R22. doi: 10.1093/ejendo/lvad140. PMID: 37847213
Nanba K, Rainey WE
Curr Opin Endocrinol Diabetes Obes 2022 Jun 1;29(3):233-242. doi: 10.1097/MED.0000000000000729. PMID: 35621175Free PMC Article
Reincke M, Bancos I, Mulatero P, Scholl UI, Stowasser M, Williams TA
Lancet Diabetes Endocrinol 2021 Dec;9(12):876-892. doi: 10.1016/S2213-8587(21)00210-2. PMID: 34798068
Stowasser M, Gordon RD
J Steroid Biochem Mol Biol 2001 Sep;78(3):215-29. doi: 10.1016/s0960-0760(01)00097-8. PMID: 11595502

Therapy

Kaiser J
Science 2023 Nov 17;382(6672):751. Epub 2023 Nov 16 doi: 10.1126/science.adm9506. PMID: 37972155
Stanton AM, Heydarpour M, Williams JS, Williams GH, Adler GK
Hypertension 2023 Dec;80(12):2665-2673. Epub 2023 Oct 17 doi: 10.1161/HYPERTENSIONAHA.123.21229. PMID: 37846579Free PMC Article
Tan ST, Boyle V, Elston MS
Hypertension 2023 Jul;80(7):1517-1525. Epub 2023 May 12 doi: 10.1161/HYPERTENSIONAHA.123.21054. PMID: 37170822
Stowasser M, Gordon RD
J Steroid Biochem Mol Biol 2001 Sep;78(3):215-29. doi: 10.1016/s0960-0760(01)00097-8. PMID: 11595502
Greco RG, Carroll JE, Morris DJ, Grekin RJ, Melby JC
J Clin Endocrinol Metab 1982 Nov;55(5):1013-6. doi: 10.1210/jcem-55-5-1013. PMID: 7119083

Prognosis

Santana LS, Guimaraes AG, Almeida MQ
Front Endocrinol (Lausanne) 2022;13:927669. Epub 2022 Jun 23 doi: 10.3389/fendo.2022.927669. PMID: 35813615Free PMC Article
Khandelwal P, Deinum J
Pediatr Nephrol 2022 Jul;37(7):1495-1509. Epub 2021 Aug 20 doi: 10.1007/s00467-021-05246-x. PMID: 34414500
Chikladze NM, Favorova OO, Chazova IE
Ter Arkh 2018 Sep 20;90(9):115-122. doi: 10.26442/terarkh2018909115-122. PMID: 30701745
Mulatero P, Tizzani D, Viola A, Bertello C, Monticone S, Mengozzi G, Schiavone D, Williams TA, Einaudi S, La Grotta A, Rabbia F, Veglio F
Hypertension 2011 Nov;58(5):797-803. Epub 2011 Aug 29 doi: 10.1161/HYPERTENSIONAHA.111.175083. PMID: 21876069
Gordon RD
Clin Exp Hypertens 1997 Jul-Aug;19(5-6):857-70. doi: 10.3109/10641969709083191. PMID: 9247760

Clinical prediction guides

Santana LS, Guimaraes AG, Almeida MQ
Front Endocrinol (Lausanne) 2022;13:927669. Epub 2022 Jun 23 doi: 10.3389/fendo.2022.927669. PMID: 35813615Free PMC Article
Chikladze NM, Favorova OO, Chazova IE
Ter Arkh 2018 Sep 20;90(9):115-122. doi: 10.26442/terarkh2018909115-122. PMID: 30701745
Tong A, Liu G, Wang F, Jiang J, Yan Z, Zhang D, Zhang Y, Cai J
J Clin Endocrinol Metab 2016 Nov;101(11):4290-4297. Epub 2016 Jul 12 doi: 10.1210/jc.2016-1504. PMID: 27403928Free PMC Article
Aglony M, Martínez-Aguayo A, Carvajal CA, Campino C, García H, Bancalari R, Bolte L, Avalos C, Loureiro C, Trejo P, Brinkmann K, Giadrosich V, Mericq V, Rocha A, Avila A, Perez V, Inostroza A, Fardella CE
Hypertension 2011 Jun;57(6):1117-21. Epub 2011 Apr 18 doi: 10.1161/HYPERTENSIONAHA.110.168740. PMID: 21502562
Sukor N, Mulatero P, Gordon RD, So A, Duffy D, Bertello C, Kelemen L, Jeske Y, Veglio F, Stowasser M
J Hypertens 2008 Aug;26(8):1577-82. doi: 10.1097/HJH.0b013e3283028352. PMID: 18622235

Recent systematic reviews

Araujo-Castro M, Parra P, Martín Rojas-Marcos P, Paja Fano M, González Boillos M, Pascual-Corrales E, García Cano AM, Ruiz-Sanchez JG, Vicente Delgado A, Gómez Hoyos E, Ferreira R, García Sanz I, Recasens Sala M, Barahona San Millan R, Picón César MJ, Díaz Guardiola P, Perdomo CM, Manjón-Miguélez L, García Centeno R, Rebollo Román Á, Gracia Gimeno P, Robles Lázaro C, Morales-Ruiz M, Calatayud M, Furio Collao SA, Meneses D, Sampedro Nuñez M, Escudero Quesada V, Mena Ribas E, Sanmartín Sánchez A, Gonzalvo Diaz C, Lamas C, Del Castillo Tous M, Serrano Gotarredona J, Michalopoulou Alevras T, Moya Mateo EM, Hanzu FA
Front Endocrinol (Lausanne) 2024;15:1336306. Epub 2024 Mar 1 doi: 10.3389/fendo.2024.1336306. PMID: 38495792Free PMC Article
Tan ST, Boyle V, Elston MS
Hypertension 2023 Jul;80(7):1517-1525. Epub 2023 May 12 doi: 10.1161/HYPERTENSIONAHA.123.21054. PMID: 37170822
Sanga V, Rossitto G, Seccia TM, Rossi GP
Hypertension 2022 Sep;79(9):1912-1921. Epub 2022 Jun 10 doi: 10.1161/HYPERTENSIONAHA.121.18858. PMID: 35686552
Sanga V, Seccia TM, Rossi GP
Endocrine 2021 Oct;74(1):5-10. Epub 2021 May 27 doi: 10.1007/s12020-021-02763-5. PMID: 34043182Free PMC Article

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