Autosomal Dominant Polycystic Kidney Disease

548 WordsFeb 1, 20182 Pages
Autosomal Dominant Polycystic Kidney Diseae (ADPKD) is a very common disorder characterized by progressive enlargement of kidneys that show presence of multiple fluid-filled cysts. Extrarenal manifestations include multiple hepatic cysts, cysts in pancreas, spleen, and seminal vesicals and show cardiovascular abnormalities. About 10% of the patients present with intracranial aneurysms and 8% have sub-arachnoid cysts. Renal function declines in about 50% of ADPKD patients by third or fourth decade of life leading to End Stage Renal Disease (ESRD). Its prevalence world-wide ranges from 1/500 to 1/1000. In India about 2.5% of patients with Chronic Kidney Disease (CKD) have ADPKD. Renal replacement therapies are the only available treatment for these patients. ADPKD is a genetically heterogenous disease with mutations in either PKD1 or PKD2 gene. PKD1 gene is located at chromosome 16p13.3 and PKD2 gene localizes to 4q21-22. In Western population about 85% have mutations in PKD1 gene and rest 15% has PKD2 mutations (23-25% in some populations). Patients with mutation in PKD1 gene have more severe phenotype and an early onset disease than those linked to PKD2. Though most of the ADPKD patients have positive family history, about 10% have de-novo mutations. Asymptomatic at-risk family members have 50% chance of inheriting the disease. Previously reported studies have suggested a possibility of a third locus in families that did not relate to mutations in PKD1 or PKD2 gene. However
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