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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

Korochkina E.S.

Morozovskaya Children’s City Clinical Hospital

Skobeev D.A.

Morozovskaya Children’s City Clinical Hospital

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

Lavrentyeva I.N.

Morozovskaya Children’s City Clinical Hospital

Ageenkova E.V.

Morozovskaya Children’s City Clinical Hospital

Nikolaeva D.Yu.

Morozovskaya Children’s City Clinical Hospital

Romanova Yu.V.

Morozovskaya Children’s City Clinical Hospital

Gorycheva O.A.

Morozovskaya Children’s City Clinical Hospital;
Pirogov Russian National Research Medical University;
LLC “Center for Modern Pediatrics”

Arestova S.V.

Morozovskaya Children’s City Clinical Hospital

Marenich N.S.

Morozovskaya Children’s City Clinical Hospital

Nikonov E.L.

Pirogov Russian National Research Medical University

Gorelov M.V.

Pirogov Russian National Research Medical University

Late diagnosis of Wilson’s disease in children: case series

Authors:

Skvortsova T.A., Volynets G.V., Khasanova K.A., Korochkina E.S., Skobeev D.A., Nikitin A.V., Lavrentyeva I.N., Ageenkova E.V., Nikolaeva D.Yu., Romanova Yu.V., Gorycheva O.A., Arestova S.V., Marenich N.S., Nikonov E.L., Gorelov M.V.

More about the authors

Journal: Russian Journal of Evidence-Based Gastroenterology. 2024;13(4): 104‑120

DOI: 10.17116/dokgastro202413041104

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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

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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.

OBJECTIVE

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.

CLINICAL CASE

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.

CONCLUSION

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:

Wilson’s disease
cirrhosis
copper metabolism disorders
hepatic encephalopathy
chelation therapy

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

Korochkina E.S.

Morozovskaya Children’s City Clinical Hospital

Skobeev D.A.

Morozovskaya Children’s City Clinical Hospital

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

Lavrentyeva I.N.

Morozovskaya Children’s City Clinical Hospital

Ageenkova E.V.

Morozovskaya Children’s City Clinical Hospital

Nikolaeva D.Yu.

Morozovskaya Children’s City Clinical Hospital

Romanova Yu.V.

Morozovskaya Children’s City Clinical Hospital

Gorycheva O.A.

Morozovskaya Children’s City Clinical Hospital;
Pirogov Russian National Research Medical University;
LLC “Center for Modern Pediatrics”

Arestova S.V.

Morozovskaya Children’s City Clinical Hospital

Marenich N.S.

Morozovskaya Children’s City Clinical Hospital

Nikonov E.L.

Pirogov Russian National Research Medical University

Gorelov M.V.

Pirogov Russian National Research Medical University

Received:

10.09.2024

Accepted:

17.09.2024

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