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Skvortsova T.A.
Morozovskaya Children’s City Clinical Hospital;
Pirogov Russian National Research Medical University;
Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University
Volynets G.V.
Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University;
Pirogov Russian National Research Medical University
Khasanova K.A.
Morozovskaya Children’s City Clinical Hospital;
Sechenov First Moscow State Medical University
Nikitin A.V.
Morozovskaya Children’s City Clinical Hospital;
Pirogov Russian National Research Medical University;
Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University
Gorycheva O.A.
Morozovskaya Children’s City Clinical Hospital;
Pirogov Russian National Research Medical University;
LLC “Center for Modern Pediatrics”
Late diagnosis of Wilson’s disease in children: case series
Journal: Russian Journal of Evidence-Based Gastroenterology. 2024;13(4): 104‑120
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To cite this article:
Skvortsova TA, Volynets GV, Khasanova KA, et al. . Late diagnosis of Wilson’s disease in children: case series. Russian Journal of Evidence-Based Gastroenterology.
2024;13(4):104‑120. (In Russ.)
https://doi.org/10.17116/dokgastro202413041104
Wilson’s disease is a rare hereditary disorder related to copper metabolism dysfunction, which can lead to liver damage, neurological impairments, and other organ complications. Early diagnosis in children is challenging due to non-specific symptoms, often resulting in the development of complications such as liver cirrhosis.
To present clinical cases of late diagnosis of Wilson’s disease in children and to describe the difficulties physicians face when diagnosing the disease at advanced stages.
The article presents three clinical cases of children diagnosed with Wilson’s disease at over 15 years of age. All patients exhibited cirrhosis-related complications, including thrombocytopenia, esophageal varices, anemia, and biochemical abnormalities. The diagnosis was confirmed in all patients through laboratory and genetic testing.
Late diagnosis of Wilson’s disease complicates treatment and often necessitates liver transplantation. Early diagnosis is crucial for timely initiation of pharmacological therapy and the prevention of serious complications. These clinical cases highlight the importance of regular screening in children suspected of having Wilson’s disease, especially in those with cirrhosis or other liver dysfunctions, to improve treatment outcomes.
Keywords:
Authors:
Skvortsova T.A.
Morozovskaya Children’s City Clinical Hospital;
Pirogov Russian National Research Medical University;
Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University
Volynets G.V.
Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University;
Pirogov Russian National Research Medical University
Khasanova K.A.
Morozovskaya Children’s City Clinical Hospital;
Sechenov First Moscow State Medical University
Nikitin A.V.
Morozovskaya Children’s City Clinical Hospital;
Pirogov Russian National Research Medical University;
Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University
Gorycheva O.A.
Morozovskaya Children’s City Clinical Hospital;
Pirogov Russian National Research Medical University;
LLC “Center for Modern Pediatrics”
Received:
10.09.2024
Accepted:
17.09.2024
List of references:
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