Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder primarily caused by mutations in the PKD1 gene, which encodes polycystin-1—a protein responsible for cellular signaling and the structure of renal tubules. The defect leads to cyst formation, gradually impairing kidney function and potentially affecting other organs, such as the liver and the cardiovascular system. The disease manifests with hypertension, flank pain, hematuria, and progressive CKD. Diagnosis is based on imaging and genetic testing. Treatment focuses on slowing disease progression through symptom control, while renal replacement therapy is required in advanced kidney failure. Research on PKD1 offers new therapeutic opportunities to slow cystogenesis and improve prognosis. We present a clinical case of a 35-year-old male with polycystic kidney disease. The genetic analysis identified a novel PKD1 mutation: c.11456_11468del p.(Tyr3819Trpfs*3).
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Autosomal Dominant Polycystic Kidney Disease (ADPKD) By Enrica Fung, MD, MPH, Loma Linda University School of Medicine Reviewed/Revised Mar 2025
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