@article{article_1127755, title={Wilson Disease in Children: Analysis of 21 Patients}, journal={Osmangazi Tıp Dergisi}, volume={44}, pages={873–880}, year={2022}, DOI={10.20515/otd.1127755}, author={Aydemir, Yusuf and Barış, Meral and Barış, Zeren}, keywords={Bakır, Kayser-Fleischer halkası, Seruloplazmin, Wilson hastalığı}, abstract={<div style="text-align:justify;">Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. Affected children may be asymptomatic, makes the diagnosis more difficult. In this study, we aimed to evaluate the clinical, laboratory, histopathological and genetic characteristics, and outcomes of the patients with WD. Our study includes patients who were diagnosed with WD between January 2010 and December 2020. The presenting complaints, physical examination findings, consanguinity and family history, laboratory, genetic, histopathological evaluation results, treatment and outcomes were all recorded. A total of 21 patients from 18 families [median age 9.5 (1-14) years, 10 girls] were included. Kayser-Fleischer ring was detected in 11 (52.4%) patients. Serum ceruloplasmin (<20 mg/dl) was low in 15 patients. Urinary copper excretion was >100 µg/day in 17 patients. Copper was positively stained with rhodanine in 9 of the18 liver biopsies. Liver copper content was >50 µg/g dry weight in all patients, 50-250 µg/g in 3 patients and >250 µg/g in 15 patients. Genetic evaluation was available in 18 patients and revealed heterozygous mutations in the ATP7B gene in 4 patients, combined heterozygous mutations in 6, and homozygous mutations in 8. Except for two patients with neurological findings and three asymptomatic patients who were diagnosed by family screening, all were presented with liver findings. Neurological involvement was also detected in 2 patients during follow up. D-Penicillamine and zinc sulfate combined treatments were used in 16 patients, zinc sulfate monotherapy was given to a presymptomatic patient diagnosed with family screening, and trientine and zinc sulfate combined therapies were used in four patients with neurological involvement. Transaminase values returned to normal in a median of 8.3 (4-23) months in 15 patients. The Kayser-Fleischer ring disappeared in a median of 32.8 months (10-81) in seven out of eleven patients. While liver transplantation was performed in one of the two patients who presented with fulminant hepatic failure at admission, the other was followed up with plasmapheresis and chelation therapy without the need for transplantation. Wilson disease should be considered in the differential diagnosis of all kinds of liver diseases ranging from asymptomatic elevation of transaminases to acute liver failure. Since early diagnosis and treatment are very important, family screening should definitely be recommended in diagnosed patients. </div>}, number={6}, publisher={Eskişehir Osmangazi Üniversitesi}