Heritageful Wilson's Disease in the Practice of Pediatricians and Family Physicians (Clinical Cases)

The relevance of this issue stems from the high risk of mortality and disability in pediatric patients with Wilson’s disease. The purpose of the work is to analyze the current challenges in diagnosing and managing this condition, particularly given the limited experience of pediatricians and family physicians with rare pediatric pathologies, based on our clinical observations of children with Wilson’s disease. Material and methods of the study. The investigation was based on clinical observation of children with confirmed Wilson’s disease. Diagnostic evaluation included comprehensive clinical assessment, biochemical testing, ultrasonographic examination, and histopathological analysis when indicated. Results of the study. We present two clinical cases of Wilson’s disease with distinct disease progression. The first clinical case involved a 14-year-old patient admitted in critical condition with manifestations of severe liver dysfunction including marked hyperbilirubinemia and ascites. Despite intensive care measures in the ICU, the patient's condition progressively deteriorated with development of progressive multiorgan failure, disseminated intravascular coagulation (DIC), and hemodynamic instability. On day 10 of hospitalization, the patient succumbed to acute hepatorenal failure. Postmortem examination confirmed Wilson’s disease. The second case concerned a 5.5-year-old girl initially evaluated in outpatient settings for nonspecific digestive complaints. Biochemical testing revealed elevated hepatic transaminases, reduced ceruloplasmin levels, and negative infectious markers. The patient was referred to the Pediatric Hepatology Center at the State Institution "IPAG NAMSU," where Wilson’s disease (hepatic phenotype) was confirmed. Over the past six years, she has been treated with the copper chelator D-penicillamine and maintained a low-copper diet. Her condition remains stable, with no disease progression and preserved quality of life.. Conclusions. These clinical observations demonstrate that delayed diagnosis of Wilson’s disease inevitably leads to mortality, while early intervention enables favorable prognosis. Our experience emphasizes the importance of considering Wilson’s disease in pediatric patients with hepatic abnormalities and the critical need for specialist referral in such cases.