Caroli's disease
| Classification according to ICD-10 | |
|---|---|
| Q44.5 | Other congenital malformations of the bile ducts |
| ICD-10 online (WHO version 2019) | |
The Caroli's disease , named after the first person to describe Jacques Caroli (1902-1979), is a rare with about 200 documented cases (until 2002) congenital disease of the bile ducts . The large bile ducts in the liver are significantly widened and inflammation and stone formation in the bile ducts often occur. The genetic cause is still unclear, but in most cases it follows an autosomal recessive inheritance . If the disease is combined with fibrosis of the liver, it is called Caroli syndrome .
Symptoms
In the first five to 20 years of life, the disease can develop with no or only occasional symptoms. The expansion of the intrahepatic bile ducts leads to a slowed flow of bile and promotes the formation of gallstones as well as infections of the bile ducts ( cholangitis ), which is why recurring fever with jaundice ( jaundice ) is sometimes associated with upper abdominal pain. If gallstones are found only in the biliary tract, but not in the gallbladder, Caroli disease should be ruled out urgently.
diagnosis
Evidence for the diagnosis of Caroli's disease is evidence that the cysts in the liver are related to the bile ducts. This is by ultrasonography , computed tomography , magnetic resonance cholangiopancreatography (MRCP), ERCP , or scintigraphy (hepatobiliary Funktionsszintigraphie means of radioactively labeled lidocaine - derivatives ) are possible. The disease can also occur in connection with a recessive form of polycystic kidney degeneration ( PKHD1 gene mutation), in which case the resulting renal insufficiency is in the foreground. These cases overlap with reno-hepato-pancreatic dysplasia .
therapy
The therapy depends on the extent to which the biliary tract is affected. If only one lobe of the liver is affected, it can be resected . If the disease is inoperable, a liver transplant is an option. Symptomatic treatment includes the consistent elimination of infections with a suitable antibiotic and the dissolution of the gallstones with ursodeoxycholic acid .
Complications
The frequency of biliary tract infections can vary widely from patient to patient. The more frequently they occur, the worse the prognosis, because the quality of life of these patients is limited at an early age. Abscesses in the liver represent a further complication . The frequency of cancers associated with cystic liver disease is given as 2.5–16%. Specifically for Caroli's disease, Gupta give a frequency of 7% for cholangiocarcinomas . The occurrence of amyloidosis as part of the disease has also been described. Liver abscesses or sepsis resulting from a biliary tract infection reduce overall life expectancy.
Individual evidence
- ↑ O. Yonem, Y. Bayraktar: Clinical characteristics of Caroli's syndrome. In: World J Gastroenterol. 2007; 13 (13), pp. 1934-1937. PMID 17461492 .
- ↑ a b A. K. Gupta and others: Caroli's Disease. In: Indian J Pediatr. . 2006; 73 (3), pp. 233-235. PMID 16567920
- ^ A b c d e f O. Yonem, Y. Bayraktar: Clinical characteristics of Caroli's disease. In: World J Gastroenterol. 2007; 13 (13), pp. 1930-1933. PMID 17461492 .
