Pediatric Caroli Disease Clinical Presentation

  • Author: Joshua R Friedman, MD, PhD; Chief Editor: Carmen Cuffari, MD   more...
 
Updated: Apr 3, 2012
 

History

  • Patients with Caroli disease or Caroli syndrome may have a history of intermittent abdominal pain, which reflects episodes of bile stasis or the passage of bile stones.
  • Patients may report pruritus secondary to cholestasis.
  • Patients with cholangitis may report fever and pain in the right upper quadrant.
  • In Caroli syndrome, portal hypertension may result in hematemesis or melena secondary to bleeding varices. Patients may also develop ascites in association with portal hypertension.
  • Because Caroli syndrome is associated with autosomal recessive polycystic kidney disease (ARPKD) and is inherited in an autosomal recessive manner, the patient may have a family history of kidney or liver disease.
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Physical

  • Hepatomegaly may be present.
  • Splenomegaly may be present if portal hypertension occurs.
  • Tenderness of the right upper quadrant is occasionally present.
  • Abdominal mass or masses occur if large polycystic kidneys are present.
  • Jaundice is rarely present.
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Causes

  • A genetic cause is likely, given the association with ARPKD.
    • Mutations in PKHD1 on chromosome 6p21, which is the gene linked to ARPKD, have been identified in patients with Caroli syndrome.
    • PKHD1 encodes the protein fibrocystin, which is expressed in cortical and medullary ducts in the kidney as well as biliary and pancreatic ducts in a pattern consistent with the histologic patterns seen in ARPKD.
    • Fibrocystin is one of a larger family of proteins that are present in the primary cilium.
    • Recent research supports a mechanistic link between ciliary dysfunction and polycystic kidney disease, although this remains controversial.
    • The number of cases of Caroli syndrome caused by PKHD1 mutations is not known.
  • Caroli syndrome is inherited in an autosomal recessive manner.
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Contributor Information and Disclosures
Author

Joshua R Friedman, MD, PhD  Assistant Professor of Pediatrics, University of Pennsylvania School of Medicine; Attending Physician, Division of Gastroenterology, Hepatology, and Nutrition, Children's Hospital of Philadelphia

Joshua R Friedman, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Association for the Study of Liver Diseases, and North American Society for Pediatric Gastroenterology and Nutrition

Disclosure: Pfizer, Inc. Ownership interest None; Johnson & Johnson Ownership interest None

Coauthor(s)

David A Piccoli, MD  Chief of Pediatric Gastroenterology, Hepatology and Nutrition, The Children's Hospital of Philadelphia; Professor, University of Pennsylvania School of Medicine

David A Piccoli, MD is a member of the following medical societies: American Association for the Study of Liver Diseases, American Gastroenterological Association, and North American Society for Pediatric Gastroenterology and Nutrition

Disclosure: Nothing to disclose.

Robert Baldassano, MD  Director, Center for Pediatric Inflammatory Bowel Disease, Children's Hospital of Philadelphia; Professor, Department of Pediatrics, Division of Gastroenterology and Nutrition, University of Pennsylvania School of Medicine

Robert Baldassano, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Gastroenterological Association, and North American Society for Pediatric Gastroenterology and Nutrition

Disclosure: Abbott, Inc Consulting fee Consulting

Melissa Crawford Kennedy, MD  Fellow, Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Children's Hospital of Philadelphia

Disclosure: Nothing to disclose.

Specialty Editor Board

Robert Baldassano, MD  Director, Center for Pediatric Inflammatory Bowel Disease, Children's Hospital of Philadelphia; Professor, Department of Pediatrics, Division of Gastroenterology and Nutrition, University of Pennsylvania School of Medicine

Robert Baldassano, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Gastroenterological Association, and North American Society for Pediatric Gastroenterology and Nutrition

Disclosure: Abbott, Inc Consulting fee Consulting

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Carmen Cuffari, MD  Associate Professor, Department of Pediatrics, Division of Gastroenterology/Nutrition, Johns Hopkins University School of Medicine

Carmen Cuffari, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, and Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

Steven M Schwarz, MD, FAAP, FACN, AGAF  Professor of Pediatrics, Children's Hospital at Downstate, State University of New York Downstate Medical Center

Steven M Schwarz, MD, FAAP, FACN, AGAF is a member of the following medical societies: American Academy of Pediatrics, American College of Nutrition, American College of Physician Executives, American Gastroenterological Association, American Pediatric Society, Gastroenterology Research Group, New York Academy of Medicine, North American Society for Pediatric Gastroenterology and Nutrition, and Society for Pediatric Research

Disclosure: Curemark, LLC Consulting fee Board membership; Centocor, Inc. Grant/research funds Independent contractor; Johnson & Johnson, Inc. Grant/research funds Independent contractor

Chief Editor

Carmen Cuffari, MD  Associate Professor, Department of Pediatrics, Division of Gastroenterology/Nutrition, Johns Hopkins University School of Medicine

Carmen Cuffari, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, and Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

References

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Hepatic ultrasonogram of a neonate with Caroli disease. Multiple dilated intrahepatic bile ducts are present. Courtesy of Richard Bellah, MD, The Children's Hospital of Philadelphia.
 
 
 
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