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Cholelithiasis and Wilson disease.

N Rosenfield, R J Grand, J B Watkins

    The Journal of Pediatrics
    |February 1, 1978
    PubMed
    Summary
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    Children with Wilson disease (WD) frequently develop gallstones. These gallstones have higher cholesterol content, suggesting WD patients need regular gallstone screening to prevent complications.

    Area of Science:

    • Hepatology
    • Pediatric Gastroenterology
    • Genetics

    Background:

    • Wilson disease (WD) is a rare genetic disorder characterized by copper accumulation.
    • Gallstones (cholelithiasis) can occur in children and may be asymptomatic for years.
    • Clinical presentation of WD can be varied, sometimes mimicking other conditions.

    Purpose of the Study:

    • To investigate the prevalence and characteristics of gallstones in children with Wilson disease.
    • To compare the composition of gallstones in WD patients with those in age-matched controls.
    • To assess the clinical significance of gallstones in the pediatric Wilson disease population.

    Main Methods:

    • Case study of three children diagnosed with Wilson disease.
    • Clinical evaluation for cholecystitis symptoms and radiological assessment for gallstones.

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  • Surgical confirmation of gallstones via laparotomy.
  • Biochemical analysis of gallstone composition, focusing on cholesterol content.

    • Main Results:

    • All three studied children with Wilson disease presented with symptoms and radiological evidence of gallstones.
    • Gallstones from Wilson disease patients exhibited significantly higher cholesterol content compared to gallstones from children with hemolytic disease.
    • Cholelithiasis was confirmed surgically in these pediatric patients.

    Conclusions:

    • Wilson disease patients are at increased risk for developing cholesterol-rich gallstones.
    • Routine screening for gallstones is recommended in young patients diagnosed with Wilson disease.
    • Cholelithiasis should be considered in the differential diagnosis of abdominal pain in pediatric Wilson disease cases.