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[True hepatic Wilson's disease].

B Ciravegna, R Giacchino, M G Marazzi

    La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics
    |March 1, 1983
    PubMed
    Summary
    This summary is machine-generated.

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    Wilson's disease, a genetic disorder, can present primarily as liver disease in children. Early diagnosis of this hepatic form is crucial for effective D-penicillamine treatment and improved outcomes.

    Area of Science:

    • Genetics and rare diseases
    • Hepatology
    • Pediatric medicine

    Context:

    • Wilson's disease is an inherited disorder of copper metabolism.
    • It can manifest with predominantly hepatic symptoms, especially in pediatric patients.
    • Distinguishing the hepatic form from other liver diseases is clinically significant.

    Purpose:

    • To present fourteen cases of Wilson's disease, focusing on the pure hepatic form.
    • To highlight diagnostic methods and therapeutic responses.
    • To emphasize the importance of considering Wilson's disease in pediatric liver disease differential diagnoses.

    Summary:

    • Fourteen Wilson's disease cases, nine with pure hepatic form, were analyzed.
    • Diagnosis relied on ceruloplasmin, serum, and urine copper levels, with elevated liver copper in 8/14 cases.

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  • D-penicillamine improved liver function in 8 patients, though one developed nephrotic syndrome.

    • Impact:

    • Early identification of the pure hepatic form of Wilson's disease is vital for timely intervention.
    • Recognizing this presentation aids in managing pediatric liver disease, especially when viral markers are negative.
    • Effective D-penicillamine therapy can lead to hepatic improvement in affected children.