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Overview of Monogenic Forms of Hypertension Combined With Hypokalemia
- Source :
- Frontiers in Pediatrics, Frontiers in Pediatrics, Vol 8 (2021)
- Publication Year :
- 2021
- Publisher :
- Frontiers Media S.A., 2021.
-
Abstract
- Hypertension is an important risk factor in many conditions and creates a heavy burden of disease and mortality globally. Polygenic hypertension is the most common form; however, it is increasingly recognized that monogenic hypertension is not rare, especially in patients with electrolyte disorders. Single genetic alterations are associated with plasma volume expansion and catecholamines/sympathetic excess with simultaneously increased potassium excretion in the urine and potassium intracellular shift. Early-onset refractory hypertension and profound hypokalemia are characteristics of monogenic hypertension. However, accumulated evidence shows the existence of phenotypic heterogeneity in monogenic hypertension meaning that, even for mild symptoms, clinicians cannot easily exclude the possibility of monogenic hypertension. Genetic, epigenetic and non-genetic factors are all possible mechanisms influencing phenotypic diversity. Genetic sequencing is a precise and efficient method that can broaden the mutant gene spectrum of the disease and is very helpful for understanding the pathophysiology of monogenic hypertension. Genetic sequencing, along with biochemical tests and imaging modalities, is essential for the early diagnosis and targeted management of monogenic hypertension to avoid long-term catastrophic complications.
- Subjects :
- 030209 endocrinology & metabolism
genetic sequencing
Disease
Review
030204 cardiovascular system & hematology
Bioinformatics
Plasma volume
Pediatrics
03 medical and health sciences
0302 clinical medicine
hypokalemia
Medicine
Epigenetics
Risk factor
pathophysiology
Genetic heterogeneity
business.industry
lcsh:RJ1-570
Increased potassium
lcsh:Pediatrics
Hypokalemia
monogenic hypertension
Pediatrics, Perinatology and Child Health
phenotypic variability
medicine.symptom
business
Electrolyte Disorder
Subjects
Details
- Language :
- English
- ISSN :
- 22962360
- Volume :
- 8
- Database :
- OpenAIRE
- Journal :
- Frontiers in Pediatrics
- Accession number :
- edsair.doi.dedup.....0e91b2f2c36f946f82a5a1f1e66182dd