A Rare Case of Autosomal Dominant Polycystic Kidney Disease Presenting in utero

Abstract

ABSTRACT Autosomal dominant polycystic kidney disease (ADPKD) is the most widespread cause of genetic nephropathy. Only 25% of patients are symptomatic.1 One in 1,000 people carries the autosomal dominant polycystic kidney disease mutant gene. Autosomal dominant polycystic kidney disease is usually asymptomatic until the third or fourth decade of life, although histological evidence of the disease is likely to be present from intrauterine life. Rarely, however, kidneys that are anatomically similar may cause death in infancy or early childhood, and the condition has been designated as “adult variety occurring in infancy”.2 In ADPKD, cysts develop only later in adulthood yet exceptionally cysts may be encountered in utero. We report a rare case of ADPKD, which was diagnosed by ultrasonography in utero as infantile polycystic kidney disease due to the presence of bilateral enlarged hyperechogenic kidneys with oligohydramnios. Pregnancy was terminated and autopsy revealed it to be an adult polycystic kidney disease. This case is reported due to its rare presentation in utero.