HIPERTENSI SEKUNDER: GEN-GEN YANG MERANGSANG PEREMBESAN ALDOSTERON YANG BERLEBIHAN (SECONDARY HYPERTENSION: GENES THAT STIMULATE EXCESSIVE SECRETION OF ALDOSTERONE)
http://dx.doi.org/10.17576/JSKM-2022-2001-05
- Author:
SITI KHADIJAH SYED MOHAMMED NAZRI
1
;
ELENA AISHA AZIZAN
1
Author Information
1. Jabatan Perubatan, Pusat Perubatan Universiti Kebangsaan Malaysia (PPUKM), Jalan Yaacob Latif, Bandar Tun Razak, 56000 Kuala Lumpur, Malaysia
- Publication Type:Journal Article
- Keywords:
Primary aldosteronism;
hypertension;
hyperaldosteronism;
mutation
- From:Malaysian Journal of Health Sciences
2022;20(No.1):51-63
- CountryMalaysia
- Language:English
-
Abstract:
Hypertension is highly prevalent in Malaysia and even the rest of the world. Primary aldosteronism (PA) is one of the
most common treatable cause of secondary hypertension. PA occurs due to excessive secretion of aldosterone in the
adrenal glands. Up to one in five resistant hypertension cases are due to PA. Therefore, there are a high number of
individuals who have the potential to be cured of their hypertension. However, this is difficult to achieve due to limitations
in the procedure of diagnosing the PA disease. The challenge now is to know the best usage of available diagnostic
methods to detect those who would most likely be cured of hypertension which may be associated with the genotype of
the disease. In the past decade, five genes have been found to cause excess aldosterone production in aldosteroneproducing adenomas (APAs), namely KCNJ5, ATP1A1, ATP2B3, CACNA1D and CTNNB1. These somatic mutations have
been found to activate the intracellular signaling pathway that regulates aldosterone production. Studies on bilateral
adrenal hyperplasia (BAH) samples also have identified the genetic causes for the many hereditary hyperaldosteronism,
namely familial hyperaldosteronism types I, II, III, and IV/V. Herein we review the genetic factors of PA as a result of
either aldosterone-stimulating somatic mutations or germline variants, and the associated clinical phenotype.
- Full text:14.2022my0403.pdf
