Publication details

Autosomálně dominantní polycystóza ledvin u plodu se zdánlivě negativní rodinnou anamnézou - kazuistika

Title in English Autosomal Dominant Polycystic Kidney Disease in The Fetus with Seemingly Negative Family History
Authors

JEŽOVÁ Marta PRÁŠILOVÁ Šárka

Year of publication 2010
Type Article in Periodical
Magazine / Source Česko-Slovenská patologie a soudní lékařství
MU Faculty or unit

Faculty of Medicine

Citation
Field Other medical specializations
Keywords polycystic kidney disease; ADPKD; fetal autopsy; prenatal diagnosis
Description 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 histopathologic pattern of fetal kidneys raised suspicion of ADPKD. The mothers diagnosis was established only after the abortion of the affected fetus. She had no symptoms of the disease. Multigenerational involvement was revealed on the mothers side. Mechanisms leading to prenatal ADPKD and prognosis of the pediatric patients are discussed.

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