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Glucocorticoid-remediable aldosteronism(GSH; GRA; HALD1)

MedGen UID:
824577
•Concept ID:
C3838731
•
Disease or Syndrome
Synonyms: ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME; ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE; FH I; GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM; Hyperaldosteronism, familial, type I
SNOMED CT: Familial hyperaldosteronism type 1 (703232003); Glucocorticoid-sensitive hypertension (703232003); Glucocorticoid-suppressible hyperaldosteronism (703232003); Glucocorticoid-remediable aldosteronism (703232003); Familial hyperaldosteronism type I (703232003); Dexamethasone-sensitive hypertension (703232003); GRA - glucocorticoid-remediable aldosteronism (703232003)
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.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): CYP11B1 (8q24.3)
 
Monarch Initiative: MONDO:0007080
OMIM®: 103900
Orphanet: ORPHA403

Definition

Familial hyperaldosteronism type I (HALD1), also referred to as glucocorticoid-remediable aldosteronism (GRA), is an autosomal dominant disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol (Lifton et al., 1992). There is significant phenotypic heterogeneity, and some individuals never develop hypertension (Stowasser et al., 2000). Genetic Heterogeneity of Familial Hyperaldosteronism Familial hyperaldosteronism type II (HALD2; 605635) is caused by mutation in the CLCN2 gene (600570) on chromosome 3q27. Familial hyperaldosteronism type III (HALD3; 613677) is caused by mutation in the KCNJ5 gene (600734) on chromosome 11q24. Familial hyperaldosteronism type IV (HALD4; 617027) is caused by mutation in the CACNA1H gene (607904) on chromosome 16p13. [from OMIM]

Clinical features

From HPO
Abnormality of the urinary system
MedGen UID:
867444
•Concept ID:
C4021821
•
Disease or Syndrome
An abnormality of the urinary system.
See: Feature record | Search on this feature
Hypertensive disorder
MedGen UID:
6969
•Concept ID:
C0020538
•
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
See: Feature record | Search on this feature
Increased circulating aldosterone concentration
MedGen UID:
6960
•Concept ID:
C0020428
•
Disease or Syndrome
Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.
See: Feature record | Search on this feature
Adrenogenital syndrome
MedGen UID:
86215
•Concept ID:
C0302280
•
Disease or Syndrome
Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects.
See: Feature record | Search on this feature
Adrenal hyperplasia
MedGen UID:
301220
•Concept ID:
C1621895
•
Disease or Syndrome
Enlargement of the adrenal gland.
See: Feature record | Search on this feature
Decreased circulating renin concentration
MedGen UID:
337182
•Concept ID:
C1845206
•
Finding
An decreased level of renin in the blood.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

A systematic review of pathophysiology and management of familial hyperaldosteronism type 1 in pregnancy.
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
DIAGNOSIS OF ENDOCRINE DISEASE: 18-Oxocortisol and 18-hydroxycortisol: is there clinical utility of these steroids?
Lenders JWM, Williams TA, Reincke M, Gomez-Sanchez CE
Eur J Endocrinol 2018 Jan;178(1):R1-R9. Epub 2017 Sep 13 doi: 10.1530/EJE-17-0563. PMID: 28904009Free PMC Article
AN INDIVIDUALIZED APPROACH TO THE EVALUATION AND MANAGEMENT OF PRIMARY ALDOSTERONISM.
Vaidya A, Malchoff CD, Auchus RJ; AACE Adrenal Scientific Committee
Endocr Pract 2017 Jun;23(6):680-689. Epub 2017 Mar 23 doi: 10.4158/EP161717.RA. PMID: 28332881

Recent clinical studies

Etiology

Clinical and Molecular Perspectives of Monogenic Hypertension.
Levanovich PE, Diaczok A, Rossi NF
Curr Hypertens Rev 2020;16(2):91-107. doi: 10.2174/1573402115666190409115330. PMID: 30963979Free PMC Article
Genetics of primary aldosteronism.
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
Inherited forms of mineralocorticoid hypertension.
Hassan-Smith Z, Stewart PM
Curr Opin Endocrinol Diabetes Obes 2011 Jun;18(3):177-85. doi: 10.1097/MED.0b013e3283469444. PMID: 21494136
Glucocorticoid-remediable aldosteronism.
McMahon GT, Dluhy RG
Arq Bras Endocrinol Metabol 2004 Oct;48(5):682-6. Epub 2005 Mar 7 doi: 10.1590/s0004-27302004000500014. PMID: 15761539
Glucocorticoid-remediable aldosteronism and pregnancy.
Wyckoff JA, Seely EW, Hurwitz S, Anderson BF, Lifton RP, Dluhy RG
Hypertension 2000 Feb;35(2):668-72. doi: 10.1161/01.hyp.35.2.668. PMID: 10679515

Diagnosis

Glucocorticoid-remediable aldosteronism.
Halperin F, Dluhy RG
Endocrinol Metab Clin North Am 2011 Jun;40(2):333-41, viii. doi: 10.1016/j.ecl.2011.01.012. PMID: 21565670
Glucocorticoid-remediable aldosteronism.
McMahon GT, Dluhy RG
Arq Bras Endocrinol Metabol 2004 Oct;48(5):682-6. Epub 2005 Mar 7 doi: 10.1590/s0004-27302004000500014. PMID: 15761539
Glucocorticoid-remediable aldosteronism.
McMahon GT, Dluhy RG
Cardiol Rev 2004 Jan-Feb;12(1):44-8. doi: 10.1097/01.crd.0000096417.42861.ce. PMID: 14667264
Glucocorticoid-remediable aldosteronism.
Dluhy RG, Lifton RP
J Clin Endocrinol Metab 1999 Dec;84(12):4341-4. doi: 10.1210/jcem.84.12.6256. PMID: 10599685
Glucocorticoid-remediable aldosteronism.
Litchfield WR, Dluhy RG, Lifton RP, Rich GM
Compr Ther 1995 Oct;21(10):553-8. PMID: 8565422

Therapy

Glucocorticoid-remediable aldosteronism.
Halperin F, Dluhy RG
Endocrinol Metab Clin North Am 2011 Jun;40(2):333-41, viii. doi: 10.1016/j.ecl.2011.01.012. PMID: 21565670
Glucocorticoid-remediable aldosteronism.
McMahon GT, Dluhy RG
Arq Bras Endocrinol Metabol 2004 Oct;48(5):682-6. Epub 2005 Mar 7 doi: 10.1590/s0004-27302004000500014. PMID: 15761539
Glucocorticoid-remediable aldosteronism.
McMahon GT, Dluhy RG
Cardiol Rev 2004 Jan-Feb;12(1):44-8. doi: 10.1097/01.crd.0000096417.42861.ce. PMID: 14667264
Glucocorticoid-remediable aldosteronism.
Dluhy RG, Lifton RP
J Clin Endocrinol Metab 1999 Dec;84(12):4341-4. doi: 10.1210/jcem.84.12.6256. PMID: 10599685
Glucocorticoid-remediable aldosteronism.
Williams GH, Dluhy RG
J Endocrinol Invest 1995 Jul-Aug;18(7):512-7. doi: 10.1007/BF03349762. PMID: 9221269

Prognosis

Clinical and Molecular Perspectives of Monogenic Hypertension.
Levanovich PE, Diaczok A, Rossi NF
Curr Hypertens Rev 2020;16(2):91-107. doi: 10.2174/1573402115666190409115330. PMID: 30963979Free PMC Article
Glucocorticoid-remediable aldosteronism is associated with severe hypertension in early childhood.
Dluhy RG, Anderson B, Harlin B, Ingelfinger J, Lifton R
J Pediatr 2001 May;138(5):715-20. doi: 10.1067/mpd.2001.112648. PMID: 11343049
Glucocorticoid-remediable aldosteronism and pregnancy.
Wyckoff JA, Seely EW, Hurwitz S, Anderson BF, Lifton RP, Dluhy RG
Hypertension 2000 Feb;35(2):668-72. doi: 10.1161/01.hyp.35.2.668. PMID: 10679515
Intracranial aneurysm and hemorrhagic stroke in glucocorticoid-remediable aldosteronism.
Litchfield WR, Anderson BF, Weiss RJ, Lifton RP, Dluhy RG
Hypertension 1998 Jan;31(1 Pt 2):445-50. doi: 10.1161/01.hyp.31.1.445. PMID: 9453343
Primary aldosteronism.
Holland OB
Semin Nephrol 1995 Mar;15(2):116-25. PMID: 7777722

Clinical prediction guides

Prediction of successful outcome in patients with primary aldosteronism.
Moo TA, Zarnegar R, Duh QY
Curr Treat Options Oncol 2007 Aug;8(4):314-21. doi: 10.1007/s11864-007-0039-8. PMID: 18058076
Molecular genetics of adrenocortical tumours, from familial to sporadic diseases.
Libé R, Bertherat J
Eur J Endocrinol 2005 Oct;153(4):477-87. doi: 10.1530/eje.1.02004. PMID: 16189167
Glucocorticoid remediable aldosteronism: low morbidity and mortality in a four-generation italian pedigree.
Mulatero P, di Cella SM, Williams TA, Milan A, Mengozzi G, Chiandussi L, Gomez-Sanchez CE, Veglio F
J Clin Endocrinol Metab 2002 Jul;87(7):3187-91. doi: 10.1210/jcem.87.7.8647. PMID: 12107222
Glucocorticoid-remediable aldosteronism (GRA): diagnosis, variability of phenotype and regulation of potassium homeostasis.
Dluhy RG, Lifton RP
Steroids 1995 Jan;60(1):48-51. doi: 10.1016/0039-128x(94)00010-a. PMID: 7792815
Genetic basis of familial dyslipidemia and hypertension: 15-year results from Utah.
Williams RR, Hunt SC, Hopkins PN, Wu LL, Hasstedt SJ, Berry TD, Barlow GK, Stults BM, Schumacher MC, Ludwig EH
Am J Hypertens 1993 Nov;6(11 Pt 2):319S-327S. doi: 10.1093/ajh/6.11.319s. PMID: 8297539

Recent systematic reviews

Systematic Review of Therapeutic Agents and Long-Term Outcomes of Familial Hyperaldosteronism Type 1.
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
A systematic review of pathophysiology and management of familial hyperaldosteronism type 1 in pregnancy.
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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