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Caroli's disease: prenatal diagnosis, postnatal outcome and genetic analysis
Author(s) -
Sgro M.,
Rossetti S.,
Barozzino T.,
Toi A.,
Langer J.,
Harris P. C.,
Harvey E.,
Chitayat D.
Publication year - 2004
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1002/uog.943
Subject(s) - autosomal recessive polycystic kidney disease , medicine , prenatal diagnosis , polycystic kidney disease , disease , pathology , intrahepatic bile ducts , fetus , liver disease , cyst , choledochal cysts , cystic kidney disease , gastroenterology , pregnancy , bile duct , genetics , biology
Caroli's disease is a rare autosomal recessive condition characterized by cystic dilatation of the intrahepatic bile ducts and infantile polycystic kidney disease. We report a case with Caroli's disease detected prenatally at 33 weeks' gestation with fetal ultrasound findings of a cystic liver mass and echogenic kidneys. Postnatal investigation confirmed enlarged and echogenic kidneys with dilatation of the intrahepatic bile ducts consistent with the diagnosis of Caroli's disease. Genetic analysis of the gene, PKHD1 , associated with autosomal recessive polycystic kidney disease (ARPKD) showed that the patient had compound heterozygous mutations, confirming that this early onset Caroli's disease was part of the spectrum of ARPKD. To our knowledge this is the third case of Caroli's disease detected prenatally and the first in which the infant survived. Copyright © 2003 ISUOG. Published by John Wiley & Sons, Ltd.