Bilirubin, Impaired Conjugation Clinical Presentation

  • Author: Sandeep Mukherjee, MB, BCh, MPH, FRCPC; Chief Editor: Julian Katz, MD   more...
 
Updated: Jan 3, 2010
 

History

  • Crigler-Najjar type I disease: The disease process appears at birth. Because the population affected by this disease overwhelmingly consists of infants, no clinical symptoms are reported.
  • Crigler-Najjar type II disease: Usually, no clinical symptoms are reported with this disease entity; however, bilirubin encephalopathy has been reported.
  • Gilbert syndrome: Patients may present with nonspecific symptoms such as fatigue and abdominal discomfort; however, most patients are asymptomatic.
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Physical

  • Crigler-Najjar type I: Physical examination findings are normal, except for jaundice. Patients may present with evidence of kernicterus. Kernicterus (the chronic and permanent sequela of bilirubin toxicity) develops during the first year after birth. The 3 major features are movement disorders (eg, chorea, ballismus, tremor), gaze abnormalities, and auditory abnormalities.
  • Crigler-Najjar type II: Physical examination findings are normal, except for jaundice.
  • Gilbert syndrome: Patients may present with jaundice; however, most patients are asymptomatic.
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Causes

All of the diseases of impaired conjugation of bilirubin are inherited syndromes caused by abnormalities in the level of the enzyme bilirubin-UGT activity.

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Contributor Information and Disclosures
Author

Sandeep Mukherjee, MB, BCh, MPH, FRCPC  Associate Professor, Department of Internal Medicine, Section of Gastroenterology and Hepatology, University of Nebraska Medical Center; Consulting Staff, Section of Gastroenterology and Hepatology, Veteran Affairs Medical Center

Sandeep Mukherjee, MB, BCh, MPH, FRCPC is a member of the following medical societies: Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

Coauthor(s)

Jeanette G Smith, MD  Fellow, Department of Gastroenterology-Hepatology, University of Connecticut School of Medicine

Jeanette G Smith, MD is a member of the following medical societies: American College of Physicians, American Gastroenterological Association, and American Public Health Association

Disclosure: Nothing to disclose.

Annie T Chemmanur, MD  Attending Physician, Metrowest Medical Center and University of Massachusetts Memorial Hospital, Marlborough Campus

Annie T Chemmanur, MD is a member of the following medical societies: American College of Physicians-American Society of Internal Medicine, American Gastroenterological Association, American Medical Association, and Massachusetts Medical Society

Disclosure: Nothing to disclose.

George Y Wu, MD, PhD  Professor, Department of Medicine, Director, Hepatology Section, Herman Lopata Chair in Hepatitis Research, University of Connecticut School of Medicine

George Y Wu, MD, PhD is a member of the following medical societies: American Association for the Study of Liver Diseases, American Gastroenterological Association, American Medical Association, American Society for Clinical Investigation, and Association of American Physicians

Disclosure: Humana Press Consulting fee Consulting; Novartis Consulting fee Review panel membership

Shirley Donelson, MD  Program Director, Assistant Professor, Department of Internal Medicine, Division of Digestive Diseases, University of Mississippi Medical School

Shirley Donelson, MD is a member of the following medical societies: American College of Gastroenterology, American College of Physicians, American Gastroenterological Association, American Medical Association, and Mississippi State Medical Association

Disclosure: Nothing to disclose.

Specialty Editor Board

David Eric Bernstein, MD  Chief, Section of Hepatology, North Shore University Hospital, Director, Associate Professor, Department of Internal Medicine, Division of Hepatology, New York University School of Medicine

David Eric Bernstein, MD is a member of the following medical societies: American Association for the Study of Liver Diseases, American College of Gastroenterology, American College of Physicians, American Gastroenterological Association, and American Society for Gastrointestinal Endoscopy

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Senior Pharmacy Editor, eMedicine

Disclosure: eMedicine Salary Employment

James L Achord, MD  Professor Emeritus, Department of Medicine, Division of Digestive Diseases, University of Mississippi School of Medicine

James L Achord, MD is a member of the following medical societies: American Association for the Study of Liver Diseases, American College of Gastroenterology, American College of Physicians, American Gastroenterological Association, American Medical Association, American Society for Gastrointestinal Endoscopy, Mississippi State Medical Association, New York Academy of Sciences, Sigma Xi, and Southern Medical Association

Disclosure: Nothing to disclose.

Alex J Mechaber, MD, FACP  Associate Dean for Undergraduate Medical Education, Associate Professor of Medicine, University of Miami Miller School of Medicine

Alex J Mechaber, MD, FACP is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians-American Society of Internal Medicine, and Society of General Internal Medicine

Disclosure: Nothing to disclose.

Chief Editor

Julian Katz, MD  Clinical Professor of Medicine, Drexel University College of Medicine; Consulting Staff, Department of Medicine, Section of Gastroenterology and Hepatology, Hospital of the Medical College of Pennsylvania

Julian Katz, MD is a member of the following medical societies: American College of Gastroenterology, American College of Physicians, American Gastroenterological Association, American Geriatrics Society, American Medical Association, American Society for Gastrointestinal Endoscopy, American Society of Law Medicine and Ethics, American Trauma Society, Association of American Medical Colleges, and Physicians for Social Responsibility

Disclosure: Nothing to disclose.

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