Polycystic horseshoe kidney case report: Genetically reviewed

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic renal disease, with a reported prevalence ranging from one in 400 to one in 1000. ADPKD accounts for as high as 10% of end-stage renal disease cases. It is characterized by cystic formation replacing kidney parenchyma leading to renal enlargement and renal functional impairment. Consequently, it is associated with renal and extrarenal complications contributing to high mortality. On the other hand, horseshoe kidney (HSK) is a common congenital renal anomaly, with an incidence ranging between one in 400 and 600. Surprisingly, the coexistence of both distinct common clinical conditions is extremely rare, and it is thought that the incidence of polycystic HSK varies from one in 134,000 to one in 8,000,000 cases. Although the particular genetic association is not established, familial cases raise the question of whether they are related. We report this case to cultivate the current medical literature regarding this rare entity.