Diagnosis and Treatment of Monogenic Hypertension in Children
Monogenic Hypertension
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https://doi.org/10.5281/zenodo.10654302Keywords:
Hypertension, monogenic inherited, pharmacogenetics, Liddle syndrome, Geller SyndromeAbstract
Hypertension (HT) is a common public health problem that develops due to primary and secondary causes. The prevalence of HT in children and adolescents is 3.6%. In childhood HT, complex and polygenic factors such as genetic, environmental, adaptive, neural, and hormonal mechanisms play a role. Among these factors, genetic factors are estimated to contribute to the development of HT by 30-60%; however, known genetic factors explain only 3% of the cases.
Monogenic inherited HT is associated with a mutation in a single gene, with or without the influence of mineralocorticoids, leading to increased sodium reabsorption and intravascular volume expansion. Typically, HT in these patients has an early onset, a family history of HT, is associated with electrolyte imbalance, and shows a clinical course refractory to treatment.
In treating monogenic inherited HT, understanding functional genetic mutations enables the utilization of highly effective pharmacogenetic pathways. This knowledge provides the opportunity to tailor treatments specifically to target the primary pathophysiological mechanism of the condition. Sodium-dependent, low renin levels, and monogenic inherited HT treatment are based on a low-sodium diet and block the pathological sodium reabsorption mechanism.
Diagnosis can be made through physical examination, blood pressure measurement, and measurement of renin, aldosterone, cortisol, and potassium levels. Monogenic inherited HTs are rare. Early diagnosis ensures blood pressure control early on, reducing the morbidity and mortality associated with HT. Genetic tests are necessary to confirm the diagnosis, make a differential diagnosis, and choose appropriate treatment.
Clinical manifestations of monogenic inherited HT in some patients extend beyond HT. Other systemic symptoms may accompany HT or manifest at certain stages of life. This article discusses monogenic inherited HT that manifests in the early stages of life, emphasizing the clinical aspects of HT.
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