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Overview of Monogenic or Mendelian Forms of Hypertension

Rupesh Raina1,2,3, Vinod Krishnappa2,4, Abhijit Das4

  • 1Department of Nephrology, Cleveland Clinic Akron General, Akron, OH, United States.

Frontiers in Pediatrics
|July 18, 2019
PubMed

Insights

Monogenic hypertension, caused by single gene mutations affecting kidney and adrenal glands, leads to high blood pressure. Early diagnosis and targeted treatments are crucial for managing this condition and preventing complications.

Area of Science:

  • Nephrology
  • Endocrinology
  • Genetics

Background:

  • Monogenic hypertension involves genetic defects in kidney and adrenal gland functions.
  • These defects cause abnormal electrolyte and fluid balance, leading to elevated blood pressure.
  • Understanding these rare forms is vital for diagnosing early-onset hypertension.

Purpose of the Study:

  • To review the characteristics of monogenic hypertension.
  • To emphasize the importance of diagnosing these conditions in pediatric and early-onset adult cases.
  • To highlight the impact of precise diagnosis on treatment strategies and patient outcomes.

Main Methods:

  • Review of existing literature on monogenic forms of hypertension.
  • Analysis of the physiological mechanisms underlying these conditions.
  • Discussion of diagnostic approaches and therapeutic implications.

Main Results:

  • Monogenic hypertension results from single gene mutations impacting blood pressure regulation.
  • These mutations cause excessive electrolyte reabsorption, leading to fluid retention and hypertension.
  • Accurate diagnosis allows for tailored treatments targeting specific pathophysiological defects.

Conclusions:

  • Monogenic hypertension requires specific diagnostic and treatment protocols.
  • Early identification and intervention can prevent severe long-term complications of hypertension.
  • Knowledge of these genetic forms is essential for effective management of early-onset hypertension.

Keywords:
Gordon syndromeLiddle syndromeapparent mineralocorticoid excesscongenital adrenal hyperplasiafamilial hyperaldosteronismmonogenic hypertension

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