Preferred Label : Caroli disease, isolated;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Congenital polycystic dilatation of intrahepatic bile ducts was first described by
Caroli et al. (1958). The condition is characterized by polycystic segmental dilatation
of the intrahepatic bile ducts and a marked predisposition to cholangitis and liver
abscess. As indicated in the discussion of infantile polycystic kidney disease (263200),
involvement of the liver compatible with Caroli disease is seen in association with
that of kidney disease and possibly also with the adult form of polycystic kidney
disease. It is possible that isolated Caroli disease occurs as a genetic entity in
some families. Tsuchida et al. (1995) reported a family in which a 5-year-old girl
was found to have Caroli disease and investigated for recurrent episodes of fever,
epigastric pain, and vomiting with associated hepatomegaly. By intravenous cholangiography,
her 9-year-old brother was found at the same time to have mottled radiopacities in
the liver identical to his sister's. He remained asymptomatic, however, until the
age of 30 when he developed bleeding esophageal varices indicative of portal hypertension.
The mother was found to have a completely normal intrahepatic biliary tree by intravenous
cholangiography. The father was found by ultrasonography and CT scan to have numerous
small cysts in the liver. None of the 3 had renal cysts. Tsuchida et al. (1995) suggested
autosomal dominant inheritance. Two affected brothers who died at ages 40 and 33,
respectively, were reported by Hunter et al. (1966). Turnberg et al. (1968) described
a 27-year-old patient whose father died of 'gastric hemorrhage' and a brother died
at age 6 years with 'enlarged liver.' Adeva et al. (2006) retrospectively reviewed
the clinical records, and where possible performed mutation screening of the PKHD1
gene (606702), in patients diagnosed with autosomal recessive polycystic kidney disease
(ARPKD; 263200) or congenital hepatic fibrosis seen at the Mayo Clinic from 1961 to
2004. Two-thirds of the patients presented after the age of 1 year, with one third
after age 20 years. In this group, complications of liver disease were the most common
reasons for seeking medical attention. On follow-up, symptoms associated with portal
hypertension or cholangitis (in patients with Caroli disease) were the most common
disease manifestations. Eight of 14 patients with MRI studies had dilated intrahepatic
bile ducts consistent with Caroli disease. Although;
Inheritance : Autosomal dominant;
Prefixed ID : 600643;
Origin ID : 600643;
UMLS CUI : C1833541;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
