Autosomal Dominant Polycystic Kidney Disease in the Fetus with Seemingly Negative Family History. A Case Report
Authors:
M. Ježová 1; Š. Prášilová 2
Authors‘ workplace:
Ústav patologie, Lékařská fakulta Masarykovy Univerzity a Fakultní nemocnice, Brno, 2Oddělení lékařské genetiky, Fakultní nemocnice, Brno
1
Published in:
Čes.-slov. Patol., 46, 2010, No. 3, p. 68-71
Category:
Overview
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.
Key words:
autosomal dominant polycystic kidney disease – polycystic kidney disease – ADPKD – gene PKD1 – prenatal diagnosis – fetal autopsy
Sources
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Labels
Anatomical pathology Forensic medical examiner ToxicologyArticle was published in
Czecho-Slovak Pathology
2010 Issue 3
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