Overview of Monogenic Forms of Hypertension Combined With Hypokalemia

Area of Science:

• Nephrology and Endocrinology
• Human Genetics and Genomics

Background:

• Hypertension poses a significant global health burden, with polygenic forms being most common.
• Monogenic hypertension, though less recognized, is increasingly identified, especially in individuals with electrolyte disorders.
• This condition involves single genetic alterations leading to plasma volume expansion and sympathetic excess.

Purpose of the Study:

• To highlight the prevalence and characteristics of monogenic hypertension.
• To emphasize the importance of genetic sequencing in diagnosing monogenic hypertension.
• To underscore the need for early diagnosis and targeted management to prevent severe complications.

Main Methods:

• Review of accumulated evidence on monogenic hypertension.
• Emphasis on genetic sequencing as a precise diagnostic tool.
• Integration of genetic sequencing with biochemical tests and imaging modalities.

Main Results:

• Monogenic hypertension is characterized by early-onset refractory hypertension and profound hypokalemia.
• Phenotypic heterogeneity exists, meaning mild symptoms do not exclude monogenic causes.
• Genetic sequencing expands the understanding of disease-causing genes and pathophysiology.

Conclusions:

• Monogenic hypertension requires consideration even with mild symptoms due to phenotypic variability.
• Genetic, epigenetic, and non-genetic factors contribute to phenotypic diversity.
• Early diagnosis via genetic sequencing, biochemical tests, and imaging is crucial for effective management and preventing long-term complications.