Abstract
Autosomal dominant polycystic kidney disease associated with dilated cardiomyopathy is a very rare association. Adult polycystic kidney disease is a systemic disorder from mutations in either PKD-1 or PKD-2 gene, that encode the proteins polycystin-1 (PC1) and polycystin-2 (PC2) respectively. Polycystin-2 is an intracellular calcium channel expressed in both renal epithelial cells and cardiac myocytes. It regulates intracellular calcium cycling. Mutation causes impaired intracellular calcium cycling and contributes to heart failure. Those who have PKD-2 mutation can have polycystic kidneys associated with idiopathic dilated cardiomyopathy.
Highlights
Autosomal dominant polycystic kidney disease associated with dilated cardiomyopathy is a very rare association
Workups to exclude the aetiology for cardiomyopathy including serum ferritin, thyroid function were unremarkable. He showed marked symptomatic improvement. This case report illustrates an association between autosomal dominant polycystic kidney disease and dilated cardiomyopathy
Autosomal dominant polycystic kidney disease (ADPKD) occurs in 1:400 – 1:1000 individuals worldwide. It is a systemic disorder resulting from mutations in either PKD–1 or PKD–2 genes, which encode the proteins polycystin-1 (PC1) and polycystin-2 (PC2) respectively
Summary
Autosomal dominant polycystic kidney disease associated with dilated cardiomyopathy is a very rare association. He had no siblings and there was no family history of heart disease or hypertension. His blood pressure was 130/90mmHg. He had flank fullness with ballotable mass in the left lumbar region. The oxygen saturation was 93% on room air.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
