Clinical Insights into Autosomal Dominant Polycystic Kidney Disease (ADPKD): A Case Report: ADPKD

Autosomal dominant polycystic kidney disease (ADPKD) is a progressive, monogenic genetic
disorder characterized by the growth of numerous cysts in the kidneysdue to mutations in genes
coding for polycystin-1 [PKD1 (85-90% of cases), polycystin-2 [PKD2 (10-15% of cases) and PKD3
gene (gene unmapped).Symptoms vary in severity and age of onset, but usually develop between the
ages of 30 and 40.It is also associated with TSC2/PKD1 contiguous gene syndrome. ADPKD is
usually inherited, but new mutations without a family history occur in approximately 10% of the
cases. A 57 year old male patient admitted to urology department presented with intermittent
episodes of Right loin pain for 6 months with a present history of swelling in right loin associated
with fever and chills reported and a past history of CKD-ADPKD-stage IV, Type II DM,HTN.He
underwent diagnostic cystoscopy and circumcision, Right URS &DJ stenting. His pus culture
revealed Enterococcus fecalis and he was initiated on IV antibiotics and supportive measures.