Wilson’s disease in a cohort of pediatric patients in Slovakia

Czech version

Authors: J. Kosnáčová; Ľ. Podracká
Authors‘ workplace: Detská klinika LF UK a DFNsP, Bratislava, Slovenská republika
Published in: Gastroent Hepatol 2017; 71(6): 476-482
Category:
doi: https://doi.org/10.14735/amgh2017476

Overview

Background:
Wilson’s disease (WD) is a rare, metabolic, genetically conditioned disease. Patients may be asymptomatic for varying periods of time or the disease may present with non-specific symptoms up to organ-specific disability. Diagnosis of the disease is confirmed by an analysis of clinical signs and the results of targeted examinations. If diagnosed early, the disease is treatable, with chelation therapy as the principal approach. Patients with acute liver failure are indicated for liver transplantation.

Material and Methods:
The authors retrospectively evaluate a group of 17 patients with WD diagnosed in childhood or adolescence.

Results:
WD was confirmed in 17 patients aged between 3 and 18 years at the 1^st Pediatric Department of the Faculty of Medicine and Children’s University Hospital in Bratislava in the period from 2000 to 2015. The most common presentation of WD was in the liver (n = 13 patients; 77%). In two patients WD manifested with acute hepatic failure in adolescent age. Long-term increase in aminotransferase activity was detected in nine patients. In two patients we identified WD at the stage of cirrhosis. Neurological symptoms were observed in two patients. The most commonly confirmed genetic mutation in the Central European region, H1069Q, was confirmed in 6 homozygous carriers, while 10 patients were compound heterozygous carriers. In one patient, pathological mutation could not be confirmed even by extensive genetic testing. Three patients from the cohort of 17 children underwent liver transplantation, 2 asymptomatic children are treated with zinc, 11 patients are treated with penicillamine, and 1 patient with trientine dihydrochloride.

Conclusion:
WD is a rare childhood disease. Its most common manifestation is the hepatic form in the second decennium. Establishing the diagnosis may be very challenging. There is no single highly sensitive and specific parameter clearly pointing to the diagnosis. Serum ceruloplasmin level is the primary screening test. Plasma levels of copper and renal excretion of copper serve as auxiliary examinations. The gold standard for confirming the diagnosis is to determine copper concentrations in the liver in dried liver tissue. Genetic testing is of benefit when confirming the diagnosis of WD, particularly in first-degree relatives, asymptomatic individuals. Early diagnosis and treatment can prevent progression of the disease. If left untreated, the disease is fatal.

Key words:
Wilson’s disease – copper – ceruloplasmin – copper in dried liver tissue

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

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

Submitted:
23. 10. 2017

Accepted:
4. 12. 2017

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