Caroli's disease: prenatal diagnosis, postnatal outcome and genetic analysis.
Ultrasound Obstet Gynecol
; 23(1): 73-6, 2004 Jan.
Article
en En
| MEDLINE
| ID: mdl-14971004
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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Ultrasonografía Prenatal
/
Enfermedad de Caroli
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Female
/
Humans
/
Male
/
Newborn
/
Pregnancy
Idioma:
En
Revista:
Ultrasound Obstet Gynecol
Asunto de la revista:
DIAGNOSTICO POR IMAGEM
/
GINECOLOGIA
/
OBSTETRICIA
Año:
2004
Tipo del documento:
Article
País de afiliación:
Canadá