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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
A young patient with a family history of hypertension
1Section of Nephrology, Yale University School of Medicine, New Haven, Connecticut aldo.peixoto@yale.edu.
Insights
Evaluating hypertension in young adults with a family history requires identifying treatable causes like those in autosomal dominant polycystic kidney disease. Aldosterone may play a role in cyst growth and hypertension.
Area of Science:
- Nephrology
- Cardiology
- Endocrinology
Background:
- Hypertension in young adults with a family history necessitates methodical evaluation for treatable causes.
- Standard evaluation includes renal imaging and hormonal assays (plasma aldosterone, plasma renin activity).
Observation:
- Autosomal dominant polycystic kidney disease (ADPKD) presents unique hypertension challenges.
- Endothelial dysfunction is implicated in early hypertension within ADPKD.
- Treatment strategies for ADPKD-related hypertension are reviewed.
Findings:
- The potential link between ADPKD and primary aldosteronism is explored.
- Evidence for a direct connection is limited.
- Aldosterone excess and hypokalemia may promote ADPKD cyst growth.
Implications:
- This review highlights the importance of considering endocrine factors in ADPKD management.
- Further research is needed to clarify the relationship between aldosterone and ADPKD progression.
- Understanding these links can lead to improved hypertension management in affected individuals.
Abstract:
The evaluation of causes of hypertension in young adults with a family history of hypertension needs to be methodical to identify potentially treatable causes. Renal- and renovascular imaging and measurement of plasma aldosterone and plasma renin activity are at the core of this evaluation in most patients. Pertinent aspects of hypertension in autosomal dominant polycystic kidney disease are discussed with a focus on the role of the endothelium in mediating early hypertension and a review of treatment strategies. Finally, the possibility that autosomal dominant polycystic kidney disease and primary aldosteronism are connected beyond coincidence is explored; evidence to support it is scant, although there is a likely role for aldosterone excess and the resultant hypokalemia in promoting cyst growth.
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