Autosomal Dominant Polycystic Kidney Disease and Pericardial Effusion

Area of Science:

• Nephrology
• Cardiology
• Genetics

Background:

• Autosomal dominant polycystic kidney disease (ADPKD) is a common hereditary kidney disorder.
• Extrarenal manifestations, including cardiac involvement like pericardial effusion (PE), are recognized but not fully understood in ADPKD.
• The underlying mechanisms for PE in ADPKD are hypothesized to involve connective tissue defects and altered matrix component production, potentially linked to PKD1 gene mutations.

Observation:

• A 35-year-old female patient with diagnosed ADPKD and hypertension presented with abdominal pain.
• Imaging revealed characteristic kidney cysts in ADPKD and moderate pericardial effusion on echocardiogram.
• Extensive testing excluded other common causes of PE, such as autoimmune diseases, malignancies, and rheumatic conditions.

Findings:

• The case presents a rare association between autosomal dominant polycystic kidney disease and pericardial effusion.
• Diagnostic workup confirmed PE in an ADPKD patient without other identifiable causes.
• The findings support the hypothesis of a potential link between ADPKD pathophysiology and cardiac complications.

Implications:

• Increased awareness of the rare ADPKD-PE association is crucial for emergency physicians to avoid misdiagnosis.
• This case underscores the importance of considering cardiac complications in ADPKD patients presenting with unexplained symptoms.
• Further research into the specific mechanisms linking ADPKD and PE may lead to improved patient management and outcomes.