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Familial hyperaldosteronism type II(HALD2)

MedGen UID:
340137
Concept ID:
C1854107
Disease or Syndrome
Synonym: FH II
SNOMED CT: Familial hyperaldosteronism type 2 (703233008)
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.
 
Gene (location): CLCN2 (3q27.1)
 
Monarch Initiative: MONDO:0011576
OMIM®: 605635
Orphanet: ORPHA404

Definition

Familial hyperaldosteronism type II (HALD2) is an autosomal dominant disorder characterized by hypertension due to increased aldosterone, often with hypokalemia. Patients usually present before age 20 years, although some may present in infancy. The disorder shows incomplete penetrance and variable expressivity; some patients may have normal blood pressure but have an increased aldosterone:renin ratio (ARR) on laboratory testing. Spironolactone is an effective treatment (summary by Scholl et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of familial hyperaldosteronism, see HALD1 (103900). [from OMIM]

Clinical features

From HPO
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Hypokalemia
MedGen UID:
5712
Concept ID:
C0020621
Finding
An abnormally decreased potassium concentration in the blood.
Hyperaldosteronism
MedGen UID:
6960
Concept ID:
C0020428
Disease or Syndrome
Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Familial hyperaldosteronism type II in Orphanet.

Professional guidelines

PubMed

Dinh HA, Stölting G, Scholl UI
Handb Exp Pharmacol 2023;279:249-262. doi: 10.1007/164_2023_660. PMID: 37311830
Zennaro MC, Jeunemaitre X
Ann Endocrinol (Paris) 2016 Jul;77(3):214-9. Epub 2016 Jun 15 doi: 10.1016/j.ando.2016.02.006. PMID: 27315758

Recent clinical studies

Etiology

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
Vehaskari VM
Pediatr Nephrol 2009 Oct;24(10):1929-37. Epub 2007 Jul 24 doi: 10.1007/s00467-007-0537-8. PMID: 17647025Free PMC Article
Stowasser M, Gordon RD
J Hypertens 2000 Sep;18(9):1165-76. doi: 10.1097/00004872-200018090-00002. PMID: 10994747

Diagnosis

Stowasser M, Wolley M, Wu A, Gordon RD, Schewe J, Stölting G, Scholl UI
Curr Hypertens Rep 2019 Apr 4;21(4):31. doi: 10.1007/s11906-019-0934-y. PMID: 30949771
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
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
Torpy DJ, Stratakis CA, Chrousos GP
Braz J Med Biol Res 2000 Oct;33(10):1149-55. doi: 10.1590/s0100-879x2000001000004. PMID: 11004715
Torpy DJ, Stratakis CA, Chrousos GP
Vitam Horm 1999;57:177-216. doi: 10.1016/s0083-6729(08)60644-5. PMID: 10232050

Therapy

Malagon-Rogers M
Pediatr Nephrol 2004 Feb;19(2):235-6. Epub 2003 Nov 25 doi: 10.1007/s00467-003-1339-2. PMID: 14648333
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

Prognosis

So A, Duffy DL, Gordon RD, Jeske YW, Lin-Su K, New MI, Stowasser M
J Hypertens 2005 Aug;23(8):1477-84. doi: 10.1097/01.hjh.0000174299.66369.26. PMID: 16003173

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