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

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

Research output: Contribution to journalArticle

27 Citations (Scopus)

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 2004

Fingerprint

Caroli Disease
Prenatal Diagnosis
kidney diseases
Autosomal Recessive Polycystic Kidney
Intrahepatic Bile Ducts
kidneys
ducts
Dilatation
Kidney
Polycystic Kidney Diseases
mutations
liver
genes
Pregnancy
Mutation
Liver
Genes

Keywords

  • Autosomal recessive
  • Hepatic cyst
  • Infantile polycystic kidney disease

ASJC Scopus subject areas

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

Cite this

Caroli's disease : Prenatal diagnosis, postnatal outcome and genetic analysis. / Sgro, M.; Rossetti, S.; Barozzino, T.; Toi, A.; Langer, J.; Harris, Peter C; Harvey, E.; Chitayat, D.

In: Ultrasound in Obstetrics and Gynecology, Vol. 23, No. 1, 01.2004, p. 73-76.

Research output: Contribution to journalArticle

Sgro, M, Rossetti, S, Barozzino, T, Toi, A, Langer, J, Harris, PC, Harvey, E & Chitayat, D 2004, 'Caroli's disease: Prenatal diagnosis, postnatal outcome and genetic analysis', Ultrasound in Obstetrics and Gynecology, vol. 23, no. 1, pp. 73-76. https://doi.org/10.1002/uog.943
Sgro, M. ; Rossetti, S. ; Barozzino, T. ; Toi, A. ; Langer, J. ; Harris, Peter C ; Harvey, E. ; Chitayat, D. / Caroli's disease : Prenatal diagnosis, postnatal outcome and genetic analysis. In: Ultrasound in Obstetrics and Gynecology. 2004 ; Vol. 23, No. 1. pp. 73-76.
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