Yonsei Med J.  2023 Feb;64(2):77-85. 10.3349/ymj.2022.0316.

Diagnosis and Treatment of Monogenic Hypertension in Children

• Park SJ
• Shin JI

• KMID: 2538956
• DOI: http://doi.org/10.3349/ymj.2022.0316

Abstract

Although the majority of individuals with hypertension (HTN) have primary and polygenic HTN, monogenic HTN is a secondary type that is widely thought to play a key role in pediatric HTN, which has the characteristics of early onset, refractory HTN with a positive family history, and electrolyte disorders. Monogenic HTN results from single genetic mutations that contribute to the dysregulation of blood pressure (BP) in the kidneys and adrenal glands. It is pathophysiologically associated with increased sodium reabsorption in the distal tubule, intravascular volume expansion, and HTN, as well as low renin and varying aldosterone levels. Simultaneously increased or decreased potassium levels also provide clues for the diagnosis of monogenic HTN. Discovering the genetic factors that cause an increase in BP has been shown to be related to the choice of and responses to antihypertensive medications. Therefore, early and precise diagnosis with genetic sequencing and effective treatment with accurate antihypertensive agents are critical in the management of monogenic HTN. In addition, understanding the genetic architecture of BP, causative molecular pathways perturbing BP regulation, and pharmacogenomics can help with the selection of precision and personalized medicine, as well as improve morbidity and mortality in adulthood.

Keyword

Monogenic hypertension; pediatrics; genetic mutation; antihypertensive agent; genetic sequencing