Prenatal presentation of fetal ADPKD is rare, however the disease is seen to present in fetal life also. We realize that ADPKD has varied presentations. It can present as isolated enlarged echogenic kidneys with or without any cystic change in fetal life or any decline in renal function. Their presence in fetal life makes a difficult situation to explain the parents the uncertain risk of progression in utero, immediate postnatal or in later years of life. We report two cases each with different presentation and different outcome of similar disease in fetus. It is yet important to diagnose maternal ADPKD in females presenting with early onset hypertension so as to reach at an early diagnosis of fetal ADPKD and similarly screen the parents if the disease presents for the first time in fetus.

Delima of Fetal Autosomal Dominant Polycystic Kidney Disease, a Disease Rare to Present in Fetal Life!

Fetal genitourinary abnormalities consist of a wide spectrum of heterogenous malformations. Serial ultrasound evaluation starting from 15 weeks of gestation can be used as a screening modality. We present a case of 30 year old lady who presented with recurrent autosomal recessive polycystic kidney disease (ARPKD) diagnosed by ultrasound in consecutive pregnancies.

Recurrent Fetal Polycystic Kidney Disease

An unusual case of fetal polycystic kidney disease is reported. Oligohydramnios and enlarged hyperechogenic kidneys were found at 21 weeks. The pregnancy was terminated and fetal autopsy performed. The histopathological pattern of fetal kidneys was consistent with glomerulocystic disease and this raised suspicion of autosomal dominant polycystic kidney disease (ADPKD). Initially, the family history seemed to be negative for ADPKD. The mother's diagnosis was established only after the abortion of the affected fetus. She had no symptoms of renal disease. Multigenerational involvement was revealed on the mother@s side. Mechanisms leading to prenatal ADPKD and prognosis of the pediatric patients are discussed.

Prásilová S

Papers

Autosomal dominant polycystic kidney disease in the fetus with seemingly negative family history. A case report