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Familial hypoaldosteronism

MedGen UID:: 899592
•Concept ID:: C4275180
•: Disease or Syndrome

Synonyms:	Familial aldosterone deficiency; familial hypoaldosteronism
SNOMED CT:	Familial aldosterone deficiency (715343000); Familial hypoaldosteronism (715343000)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0018541
Orphanet:	ORPHA427

Definition

A rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone). It is due to mutations of the /CYP11B2/ (aldosterone synthase) gene and usually presents in infancy as a life-threatening electrolyte imbalance. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Familial hypoaldosteronism

Phenotypic abnormality
- Abnormality of the endocrine system
  - Abnormality of renin-angiotensin system
    - Abnormal circulating aldosterone concentration
      - Decreased circulating aldosterone concentration
        Familial hypoaldosteronism
        Early-onset familial hypoaldosteronism
        Late-onset familial hypoaldosteronism

Professional guidelines

PubMed

Catch-up Growth and Discontinuation of Fludrocortisone Treatment in Aldosterone Synthase Deficiency.

Gurpinar Tosun B, Kendir Demirkol Y, Seven Menevse T, Kaygusuz SB, Ozbek MN, Altincik SA, Mammadova J, Cayir A, Doger E, Bayramoglu E, Nalbantoglu O, Yesiltepe Mutlu G, Aghayev A, Turan S, Bereket A, Guran T
J Clin Endocrinol Metab 2022 Jan 1;107(1):e106-e117. doi: 10.1210/clinem/dgab619. PMID: 34415991

Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia.

Schernthaner-Reiter MH, Baumgartner-Parzer S, Egarter HC, Krebs M, Kautzky-Willer A, Kirchheiner K, Luger A, Bayerle-Eder M
J Sex Med 2019 Oct;16(10):1529-1540. Epub 2019 Aug 22 doi: 10.1016/j.jsxm.2019.07.009. PMID: 31447379

Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess.

Dave-Sharma S, Wilson RC, Harbison MD, Newfield R, Azar MR, Krozowski ZS, Funder JW, Shackleton CH, Bradlow HL, Wei JQ, Hertecant J, Moran A, Neiberger RE, Balfe JW, Fattah A, Daneman D, Akkurt HI, De Santis C, New MI
J Clin Endocrinol Metab 1998 Jul;83(7):2244-54. doi: 10.1210/jcem.83.7.4986. PMID: 9661590

See all (4)

Recent clinical studies

Etiology

Catch-up Growth and Discontinuation of Fludrocortisone Treatment in Aldosterone Synthase Deficiency.

Presence of 21-Hydroxylase Antibodies in a Boy with X-Linked Adrenal Hypoplasia Congenita.

Bansal S, Castells S, Umpaichitra V, Perez-Colon S
Horm Res Paediatr 2015;84(6):408-13. Epub 2015 Oct 9 doi: 10.1159/000440803. PMID: 26448365

Genetic disorders of potassium homeostasis.

Jain G, Ong S, Warnock DG
Semin Nephrol 2013 May;33(3):300-9. doi: 10.1016/j.semnephrol.2013.04.010. PMID: 23953807

Hyponatremia and antidiuresis syndrome.

Vantyghem MC, Balavoine AS, Wémeau JL, Douillard C
Ann Endocrinol (Paris) 2011 Dec;72(6):500-12. Epub 2011 Nov 25 doi: 10.1016/j.ando.2011.10.001. PMID: 22119069

Hyperkalemia.

Hollander-Rodriguez JC, Calvert JF Jr
Am Fam Physician 2006 Jan 15;73(2):283-90. PMID: 16445274

See all (7)

Diagnosis

Role of NCC in the pathophysiology of hypertension in primary aldosteronism.

Magaña-Ávila GR, Castañeda-Bueno M
Curr Opin Nephrol Hypertens 2023 Sep 1;32(5):476-481. Epub 2023 Jul 11 doi: 10.1097/MNH.0000000000000910. PMID: 37530087

Genetic disorders of potassium homeostasis.

Jain G, Ong S, Warnock DG
Semin Nephrol 2013 May;33(3):300-9. doi: 10.1016/j.semnephrol.2013.04.010. PMID: 23953807

Hyperkalemia.

Hollander-Rodriguez JC, Calvert JF Jr
Am Fam Physician 2006 Jan 15;73(2):283-90. PMID: 16445274

Hyper- and hypoaldosteronism.

Torpy DJ, Stratakis CA, Chrousos GP
Vitam Horm 1999;57:177-216. doi: 10.1016/s0083-6729(08)60644-5. PMID: 10232050

Familial pseudohypoaldosteronism.

Kuhnle U
Curr Ther Endocrinol Metab 1997;6:167-9. PMID: 9174729

See all (31)

Therapy

Adrenal hypoplasia congenita in identical twins.

Al Amer AM, Al Rubaya KM, Alzahrani AS
Saudi Med J 2019 Jan;40(1):87-92. doi: 10.15537/smj.2019.1.23337. PMID: 30617386 Free PMC Article

A case of Liddle's syndrome; unusual presentation with hypertensive encephalopathy.

Kota SK, Kota SK, Panda S, Modi KD
Saudi J Kidney Dis Transpl 2014 Jul;25(4):869-71. doi: 10.4103/1319-2442.135185. PMID: 24969204

Familial pseudohypoaldosteronism.

Kuhnle U
Curr Ther Endocrinol Metab 1997;6:167-9. PMID: 9174729

Acidosis as a presenting feature of chloramphenicol toxicity.

Evans LS, Kleiman MB
J Pediatr 1986 Mar;108(3):475-7. doi: 10.1016/s0022-3476(86)80905-2. PMID: 3950830

Familial adrenocortical hypoplasia with early clinical and biochemical signs of mineralocorticoid deficiency (hypoaldosteronism).

Petersen KE, Tygstrup I, Thamdrup E
Acta Endocrinol (Copenh) 1977 Mar;84(3):605-19. doi: 10.1530/acta.0.0840605. PMID: 576534

See all (13)

Prognosis

Familial Glucocorticoid Deficiency: the changing landscape of an eponymous syndrome.

Maharaj AV
Front Endocrinol (Lausanne) 2023;14:1268345. Epub 2023 Dec 21 doi: 10.3389/fendo.2023.1268345. PMID: 38189052 Free PMC Article

Pseudo-hypoaldosteronism secondary to infantile urinary tract infections: role of ultrasound.

Graziano N, Agostoni C, Chiaraviglio F, Betti C, Piffer A, Bianchetti MG, Milani GP
Ital J Pediatr 2022 Jan 24;48(1):14. doi: 10.1186/s13052-022-01203-y. PMID: 35073944 Free PMC Article

Catch-up Growth and Discontinuation of Fludrocortisone Treatment in Aldosterone Synthase Deficiency.

Hyponatremia and antidiuresis syndrome.

Vantyghem MC, Balavoine AS, Wémeau JL, Douillard C
Ann Endocrinol (Paris) 2011 Dec;72(6):500-12. Epub 2011 Nov 25 doi: 10.1016/j.ando.2011.10.001. PMID: 22119069

A novel CYP11B2 gene mutation in an Asian family with aldosterone synthase deficiency.

Løvås K, McFarlane I, Nguyen HH, Curran S, Schwabe J, Halsall D, Bernhardt R, Wallace AM, Chatterjee VK
J Clin Endocrinol Metab 2009 Mar;94(3):914-9. Epub 2008 Dec 30 doi: 10.1210/jc.2008-1524. PMID: 19116236

See all (7)

Clinical prediction guides

Familial Glucocorticoid Deficiency: the changing landscape of an eponymous syndrome.

Maharaj AV
Front Endocrinol (Lausanne) 2023;14:1268345. Epub 2023 Dec 21 doi: 10.3389/fendo.2023.1268345. PMID: 38189052 Free PMC Article

Role of NCC in the pathophysiology of hypertension in primary aldosteronism.

Magaña-Ávila GR, Castañeda-Bueno M
Curr Opin Nephrol Hypertens 2023 Sep 1;32(5):476-481. Epub 2023 Jul 11 doi: 10.1097/MNH.0000000000000910. PMID: 37530087

Classification of pseudohypoaldosteronism type II as type IV renal tubular acidosis: results of a literature review.

Adachi M, Motegi S, Nagahara K, Ochi A, Toyoda J, Mizuno K
Endocr J 2023 Jul 28;70(7):723-729. Epub 2023 May 19 doi: 10.1507/endocrj.EJ22-0607. PMID: 37081692

Pseudo-hypoaldosteronism secondary to infantile urinary tract infections: role of ultrasound.

Graziano N, Agostoni C, Chiaraviglio F, Betti C, Piffer A, Bianchetti MG, Milani GP
Ital J Pediatr 2022 Jan 24;48(1):14. doi: 10.1186/s13052-022-01203-y. PMID: 35073944 Free PMC Article

A novel CYP11B2 gene mutation in an Asian family with aldosterone synthase deficiency.

See all (11)

Recent systematic reviews

Transient secondary pseudo-hypoaldosteronism in infants with urinary tract infections: systematic literature review.

Betti C, Lavagno C, Bianchetti MG, Kottanattu L, Lava SAG, Schera F, Lacalamita MC, Milani GP
Eur J Pediatr 2024 Oct;183(10):4205-4214. Epub 2024 Jul 10 doi: 10.1007/s00431-024-05676-3. PMID: 38985174 Free PMC Article

See all (1)

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Familial hypoaldosteronism

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

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