Laboratory criteria for improving the diagnosis of autoimmune hepatitis and Wilson’s disease in children

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Abstract

Specification of laboratory criteria for improving differential diagnostics of children with autoimmune hepatitis (AIH) and Wilson’s disease (WD) is a relevant task in pediatrics. Increased titers of antinuclear factor (ANF) in blood serum is among laboratory criteria for diagnostics of AIH. Some WD cases have been described which can manifest as autoimmune hepatitis (AIH) with detection of non-specific autoantibodies, thus complicating the differential diagnosis. The aim of our study was to identify the specific features for determination of antinuclear factor on the Hep-2 cell line and specific autoantibodies using a triple cell substrate in children with autoimmune hepatitis and WD. We have examined 62 pediatric patients with WD and 28 children with AIH. ANF was determined on the HEp-2 cell line (ANA-HEp-2, AESKUSLIDES®, Germany). Specific auto-antibodies were detected by means of a triple substrate obtained from rodents, which included samples of kidney, liver and stomach tissues (LKS Mouse, Germany) using indirect fluorescence reactions applying an automated analyzer HELIOS® (Germany). The analysis revealed ANF positivity in 15 out of 62 (24%) children with WD. Positive ANF results were obtained in 26 out of 28 children AIH (93%), being significantly more common in AIH compared with WD. The study of specific autoantibodies using a triple substrate revealed positive results in 34 children with WD (55%), versus 26 children with AIH (93%), Hence, the specific auto-antibodies on the triple substrate are more commonly found in children with AIH (p < 0.001) than in children with WD. In children with suspected AIH, when a homogeneous type of luminescence is detected on the HEp-2 cell line, and with a combination of different luminescence types on a triple substrate, the presence of Wilson’s disease in patients cannot be excluded.

About the authors

Anastasia A. Zhuzhula

National Medical Research Center for Children’s Health

Author for correspondence.
Email: anas-zh@inbox.ru
ORCID iD: 0000-0002-6292-7229

Junior Researcher, Laboratory of Experimental Immunology and Virology

Russian Federation, 2 Lomonosovsky Ave, Bldg 1, Moscow, 119991

Olga V. Kurbatova

National Medical Research Center for Children’s Health

Email: putintseva@mail.ru
ORCID iD: 0000-0002-9213-5281

PhD (Medicine), Senior Researcher, Laboratory of Experimental Immunology and Virology

Russian Federation, 2 Lomonosovsky Ave, Bldg 1, Moscow, 119991

Svetlana V. Petrichuk

National Medical Research Center for Children’s Health

Email: cito@list.ru
ORCID iD: 0000-0003-0896-6996

PhD, MD (Biology), Professor, Chief Researcher, Laboratory of Experimental Immunology and Virology

Russian Federation, 2 Lomonosovsky Ave, Bldg 1, Moscow, 119991

Andrei P. Fisenko

National Medical Research Center for Children’s Health

Email: Putintseva@mail.ru

PhD, MD (Medicine), Professor, Director

Russian Federation, 2 Lomonosovsky Ave, Bldg 1, Moscow, 119991

Marina A. Snovskaya

National Medical Research Center for Children’s Health

Email: snows@inbox.ru
ORCID iD: 0000-0002-5263-6743

PhD (Medicine), Leading Researcher, Laboratory of Experimental Immunology and Virology

Russian Federation, 2 Lomonosovsky Ave, Bldg 1, Moscow, 119991

Goar B. Movsisyan

National Medical Research Center for Children’s Health

Email: movsisyan@nczd.ru
ORCID iD: 0000-0003-2881-4703

PhD (Medicine), Senior Researcher, Laboratory of Rare Hereditary Diseases; Gastroenterologist, Gastroenterology Department with the Hepatological Group

Russian Federation, 2 Lomonosovsky Ave, Bldg 1, Moscow, 119991

Alexander S. Potapov

National Medical Research Center for Children’s Health; I. Sechenov First Moscow State Medical University (Sechenov University)

Email: potapov@nczd.ru
ORCID iD: 0000-0003-4905-2373

PhD, MD (Medicine), Professor, Chief Researcher, Laboratory of Scientific Foundations of Pediatric Gastroenterology and Hepatology, Head of Gastroenterology Department with Hepatology Group, Professor, Department of Pediatrics and Pediatric Rheumatology

Russian Federation, 2 Lomonosovsky Ave, Bldg 1, Moscow, 119991; Moscow

Elena L. Semikina

National Medical Research Center for Children’s Health; I. Sechenov First Moscow State Medical University (Sechenov University)

Email: semikinaelena@yandex.ru
ORCID iD: 0000-0001-8923-4652

PhD, MD (Medicine), Head, Laboratory Department, Professor, Department of Pediatrics and Pediatric Rheumatology

Russian Federation, 2 Lomonosovsky Ave, Bldg 1, Moscow, 119991; Moscow

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2. Figure 1. A1, 2, autoantibodies to smooth muscles (ASMA); B, to mitochondria (AMA); B1, to parietal cells of the stomach (PCA); C, autoantibodies to liver and kidney microsomes type 1 (LKM-1)

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Copyright (c) 2025 Zhuzhula A.A., Kurbatova O.V., Petrichuk S.V., Fisenko A.P., Snovskaya M.A., Movsisyan G.B., Potapov A.S., Semikina E.L.

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