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Diagnosis and Treatment of Monogenic Hypertension in Children

Se Jin Park1, Jae Il Shin2

  • 1Department of Pediatrics, Daejeon Eulji Medical Center, Eulji University School of Medicine, Daejeon, Korea.

Yonsei Medical Journal
|January 31, 2023
PubMed

Insights

Monogenic hypertension, caused by single gene mutations, is key in pediatric cases. Early genetic diagnosis and tailored treatments are crucial for managing this condition and improving long-term health.

Area of Science:

  • Genetics
  • Cardiology
  • Pediatrics

Background:

  • Monogenic hypertension (HTN) is a secondary form of high blood pressure, distinct from primary or polygenic HTN.
  • It is characterized by early onset, severe, and often familial hypertension, frequently accompanied by electrolyte imbalances.
  • Genetic mutations disrupt blood pressure regulation in the kidneys and adrenal glands, leading to increased sodium reabsorption and volume expansion.

Purpose of the Study:

  • To highlight the significance of monogenic hypertension in pediatric cases.
  • To emphasize the role of genetic factors in blood pressure regulation and antihypertensive medication response.
  • To underscore the importance of early diagnosis and personalized treatment strategies.

Main Methods:

  • Review of pathophysiological mechanisms of monogenic hypertension.
  • Discussion of diagnostic clues including family history and electrolyte levels.
  • Exploration of the link between genetic factors and antihypertensive drug efficacy.

Main Results:

  • Monogenic HTN involves single gene mutations affecting BP regulation.
  • Pathophysiology includes increased sodium reabsorption, volume expansion, and altered renin/aldosterone levels.
  • Potassium levels can indicate potential monogenic causes.

Conclusions:

  • Early and precise genetic diagnosis is critical for effective management of monogenic HTN.
  • Targeted antihypertensive therapy based on genetic findings improves outcomes.
  • Understanding genetic architecture and pharmacogenomics enables precision medicine for better adult morbidity and mortality.

Keywords:
Monogenic hypertensionantihypertensive agentgenetic mutationgenetic sequencingpediatrics

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