Diagnosis of Autosomal Dominant Polycystic Kidney Disease in the Uterus and Follow up in a Two-Month Old Infant: A Case Report

Polycystic kidney disease (PKD) is classified as a renal cystic disorder that leads to accumulation of cystic lesions in the kidney. This disorder is inherited as both autosomal dominant and recessive. Autosomal dominant polycystic kidney disease (ADPKD), was once thought to be a disease of adults, but is now being reported with increasing frequency in children. The diagnosis is based on clinical, radiologic and genetic evaluation..
Case Report: We present a two-month girl who was admitted to the nephrology ward with fever and discomfort in urination for three days. The prenatal sonography showed a single cyst in both kidneys and in postnatal sonography she had one cyst in the right kidney and two cysts in the left kidney. During the follow-up for kidney cysts, the cysts were increased in size and numbers in both kidneys, which were detected in serial ultrasonography and confirmed by computed tomography. Through the three years follow up; renal function tests remained within the normal limit..
The purpose of this report was prenatal diagnosis of ADPKD by ultrasonography and genetic testing, which may help appropriate management and prompt familial screening..