Wilson’s disease in childhood – two case reports

Česká verzia

Authors: El-Lababidi N. ¹; Houštěk S. ²; Šochman P. ³; Šípek A. ⁴; Frühauf P. ¹
Published in the journal: Gastroent Hepatol 2018; 72(6): 486-489
Category: Dětská gastroenterologie a hepatologie: kazuistika
doi: https://doi.org/10.14735/amgh2018486

Summary

Two unrelated girls aged 5.5 and 8 years were accidentally found to have hepatopathy and hepatomegaly. Various tests for serological, immunological, and metabolic diseases, including assessment of the ceruloplasmin and urinary copper concentrations, yielded negative results. Histological examination of liver biopsies showed varying degrees of steatosis and fibrosis in both girls. The copper concentration in dry liver specimens fulfilled the criteria for Wilson’s disease (WD). Genetic examination identified two pathogenic mutations in the ATP7B gene in both girls. WD was diagnosed, and therapy with chelating agents was initiated, which had good effects. These case reports emphasize that up to 20% of pediatric and adult WD patients have normal ceruloplasmin and urinary copper levels. The new diagnostic and therapeutic recommendations for pediatric WD issued by the European Society of Pediatric Gastroenterology, Hepatology, and Nutrition are summarized.

Key words:

Wilson’s disease – ATP7B gene – copper – ceruloplasmin – D-penicillamine – zinc salts

Submitted: 31. 8. 2018

Accepted: 10. 10. 2018

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study..

The Editorial Board declares that the manuscript met the ICMJE „uniform requirements“ for biomedical papers.

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