PKDgenen

PKDgenen refers to a group of genes associated with polycystic kidney disease, of which the best characterized are PKD1 and PKD2. PKD1 encodes the protein polycystin-1 and PKD2 encodes polycystin-2. PKD1 is located on chromosome 16 and PKD2 on chromosome 4. The polycystins form a receptor-channel complex in renal primary cilia and participate in calcium signaling, mechanosensation, and regulation of tubular cell growth and differentiation. When these functions are disrupted, cysts can form in the kidneys and, in some cases, in other organs.

Most cases are autosomal dominant polycystic kidney disease (ADPKD). A single mutated copy of PKD1 or PKD2 is usually sufficient to cause disease, though symptoms vary widely. PKD1 mutations typically lead to an earlier onset and more severe course than PKD2 mutations. The condition affects roughly 1 in 400 to 1 in 1000 people worldwide.

Clinical features include enlarging renal cysts, hypertension, flank pain, and progressive kidney dysfunction that may progress to end-stage kidney disease in adulthood. Liver cysts and other organ involvement can occur. Diagnosis relies on imaging, commonly ultrasound, to detect multiple bilateral kidney cysts, and genetic testing to identify PKD1 or PKD2 variants, especially when family history is unclear. Management is supportive, focusing on blood-pressure control, pain management, and treatment of infections. In eligible adults, tolvaptan may slow cyst growth; renal replacement therapy or transplantation may be required in advanced disease.

PKDgenen is central to ciliopathy research, reflecting the role of ciliary dysfunction in disease. Ongoing work seeks to clarify genotype-phenotype relationships and to develop targeted therapies aimed at slowing progression.