Hyperaldosteronism, familial, type IV(HALD4)

MedGen UID:: 934723
•Concept ID:: C4310756
•: Disease or Syndrome

Synonyms:	ALDOSTERONISM, PRIMARY, AND HYPERTENSION; FH IV; HALD4

Gene (location): Gene(s) directly associated with this condition or phenotype.	CACNA1H (16p13.3)

Monarch Initiative:	MONDO:0014875
OMIM®:	617027

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.

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Increased circulating aldosterone concentration

MedGen UID:: 6960
•Concept ID:: C0020428
•: Disease or Syndrome

Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.

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Elevated aldosterone:renin ratio

MedGen UID:: 1052537
•Concept ID:: CN377127
•: Finding

The ratio of aldosterone concentration to renin concentration is above the upper limit of normal. If aldosterone is expressed in ng/dl and plasma renin activity is expressed as ng/ml/hr, then values above 20 with aldosterone level above 15 are considered indicative of primary aldosteronism.

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Abnormality of the cardiovascular system
- Hypertensive disorder
Abnormality of the endocrine system
- Elevated aldosterone:renin ratio
- Increased circulating aldosterone concentration

Professional guidelines

PubMed

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: 28904009 Free PMC Article

Somatic and inherited mutations in primary aldosteronism.

Fernandes-Rosa FL, Boulkroun S, Zennaro MC
J Mol Endocrinol 2017 Jul;59(1):R47-R63. Epub 2017 Apr 11 doi: 10.1530/JME-17-0035. PMID: 28400483

SFE/SFHTA/AFCE consensus on primary aldosteronism, part 5: Genetic diagnosis of primary aldosteronism.

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

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Recent clinical studies

Etiology

Differences in the clinical and hormonal presentation of patients with familial and sporadic primary aldosteronism.

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: 38495792 Free PMC Article

Pattern of hereditary renal tubular disorders in Egyptian children.

M-Osman MA, B-Abd-Elrehim GA, Abdelkreem E, Abosdera MM, Kassem MA
Turk J Pediatr 2023;65(4):611-619. doi: 10.24953/turkjped.2022.688. PMID: 37661676

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Diagnosis

Timeline of Advances in Genetics of Primary Aldosteronism.

Meyer LS, Reincke M, Williams TA
Exp Suppl 2019;111:213-243. doi: 10.1007/978-3-030-25905-1_11. PMID: 31588534

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: 28904009 Free PMC Article

Familial hyperaldosteronism type III.

Monticone S, Tetti M, Burrello J, Buffolo F, De Giovanni R, Veglio F, Williams TA, Mulatero P
J Hum Hypertens 2017 Dec;31(12):776-781. Epub 2017 Apr 27 doi: 10.1038/jhh.2017.34. PMID: 28447626

Somatic and inherited mutations in primary aldosteronism.

Fernandes-Rosa FL, Boulkroun S, Zennaro MC
J Mol Endocrinol 2017 Jul;59(1):R47-R63. Epub 2017 Apr 11 doi: 10.1530/JME-17-0035. PMID: 28400483

Recent Developments in Primary Aldosteronism.

Asbach E, Williams TA, Reincke M
Exp Clin Endocrinol Diabetes 2016 Jun;124(6):335-41. Epub 2016 May 24 doi: 10.1055/s-0042-105278. PMID: 27219889

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