Caroli's disease: Prenatal diagnosis, postnatal outcome and genetic analysis

M. Sgro, S. Rossetti, T. Barozzino, A. Toi, J. Langer, P. C. Harris, E. Harvey, D. Chitayat

Research output: Contribution to journalArticle

29 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)73-76
Number of pages4
JournalUltrasound in Obstetrics and Gynecology
Volume23
Issue number1
DOIs
StatePublished - Jan 1 2004

Keywords

  • Autosomal recessive
  • Hepatic cyst
  • Infantile polycystic kidney disease

ASJC Scopus subject areas

  • Radiological and Ultrasound Technology
  • Reproductive Medicine
  • Radiology Nuclear Medicine and imaging
  • Obstetrics and Gynecology

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    Sgro, M., Rossetti, S., Barozzino, T., Toi, A., Langer, J., Harris, P. C., Harvey, E., & Chitayat, D. (2004). Caroli's disease: Prenatal diagnosis, postnatal outcome and genetic analysis. Ultrasound in Obstetrics and Gynecology, 23(1), 73-76. https://doi.org/10.1002/uog.943