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Monogenic Hypertension in Children: A Review With Emphasis on Genetics
Anjali Aggarwal1, David Rodriguez-Buritica1
1Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX.
Insights
Monogenic hypertension (HT) in children is linked to obesity. Genetic testing aids diagnosis and management of rare HT forms caused by specific gene defects affecting sodium transport.
Area of Science:
- Pediatric Endocrinology
- Nephrology
- Genetics
Background:
- Hypertension (HT) is a significant public health concern in children, exacerbated by rising overweight and obesity rates.
- Monogenic forms of HT require consideration in pediatric differential diagnoses, especially in severe or refractory cases.
Purpose of the Study:
- To highlight the importance of monogenic hypertension in pediatric differential diagnosis.
- To underscore the role of genetic testing in managing rare hypertensive disorders in children.
Main Methods:
- Review of genetic defects causing monogenic hypertension.
- Discussion of diagnostic criteria for identifying affected children.
- Emphasis on the implications of genetic testing.
Main Results:
- Most monogenic HT defects involve increased sodium transport in the distal nephron, leading to volume expansion and elevated blood pressure.
- Genetic testing offers diagnostic, therapeutic, and predictive insights for affected families.
Conclusions:
- Monogenic HT is crucial in the differential diagnosis of severe pediatric hypertension.
- Genetic testing is an increasingly valuable tool for understanding and managing these rare conditions.
Abstract:
Hypertension (HT) is a public health problem in children particularly related to the epidemic of overweight and obesity. Monogenic forms of HT are important in the differential diagnosis in children presenting with severe or refractory HT, who have a family history of early-onset HT, unusual physical examination findings, and/or characteristic hormonal and biochemical abnormalities. Most genetic defects in these disorders ultimately result in increased sodium transport in the distal nephron resulting in volume expansion and HT. Genetic testing, which is increasingly available, has diagnostic, therapeutic, and predictive implications for families affected by these rare conditions.
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