Endoscopy 2019; 51(04): S228
DOI: 10.1055/s-0039-1681852
ESGE Days 2019 ePosters
Friday, April 5, 2019 09:00 – 17:00: ERCP ePosters
Georg Thieme Verlag KG Stuttgart · New York

CAROLI'S DISEASE (CD) CAUSED BY VERY RARE GENETIC MUTATION, MISDIAGNOSED WITH ERCP AND MRCP AS PRIMARY SCLEROSING CHOLANGITIS (PSC)

Authors

  • D Muhovic

    1   Internal Clinic, Department of Gastroenterohepatology, Clinical Center of Montenegro, Podgorica, Montenegro

  • B Smolovic

    1   Internal Clinic, Department of Gastroenterohepatology, Clinical Center of Montenegro, Podgorica, Montenegro

  • A Hodzic

    2   Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia

  • B Peterlin

    2   Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia
Further Information

Publication History

Publication Date:
18 March 2019 (online)

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Aims:

CD is a rare congenital condition characterized by localized or diffused, multifocal, segmental dilatation of the intrahepatic bile ducts. Mutations in polycystic kidney and hepatic disease gene1 (PKHD1), located on chromosome 6, are responsible for CD, and many causative mutations are known. In some cases all clinical examinations are not sufficient to clearly diagnose CD, but genetic analysis may be helpful.

Methods:

We report the case of a 41 years old man on conservative treatment over 20 years for chronic renal insufficiency, with 4 episodes of cholangitis. Following extensive diagnostics (MRCP in 2 times, ERCP and liver biosy) the differential diagnosis included PSC and CD. In order to resolve the diagnostic dilemma, we referred the patient for genetic diagnostics, where clinical exome sequencing (CES) was performed.

Results:

MRCP showed diffuse cystic/fusiform dilatation of the intrahepatic bile ducts and normal caliber of choledochal duct, with enlarged polycystic kidneys. First the differential diagnosis of CD with polycystic kidney disease and PSC with dysplastic kidney disease was made. Liver biopsy showed multiple bile duct hamartomas (MBH), without evidence of congenital hepatic fibrosis (CHF). On the following ERCP and MRCP examinations changes in bile duct pointing to PSC were described and the diagnosis was leaning towards PSC. CES showed the presence of 2 very rare pathogenic heterozygous variants in PKHD1 gene causing CD (nonsense variant c.370C>T, and missense variant c.4870C>T).

Conclusions:

We report the discovery of 2 pathogenic variants in PKHD1 gene, causing CD with polycystic kidney disease in a patient undiagnosed for many years. Sometimes MRCP, ERCP, not even liver biopsy is not sufficient to clearly diagnose CD. Finally, in children and adult patients who present with recurrent cholangitist and hepato/splenomegaly or in all cases with cholagitis and polycystic kidney disease, a diagnosis of genetic condition – CD, should be considered.