Glycogen-storage disease type 1: medical and social alertness

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Abstract

Orphan hereditary pathologies are an urgent medical problem. Metabolic diseases have a special place among them. Currently they include about 500 nosological forms, in particular glycogen diseases. Type 1b glycogen disease (GB1b) occupies a special place. In addition to metabolic disorders, patients with this disease have severe neutropenia, which leads to frequent recurrent infectious diseases, such as stomatitis, periodontitis, furunculosis, otitis, colitis, gingivitis. In addition, recent studies showed the presence of lymphocytic dysregulation in patients with GB1b which is associated with T-regulatory lymphocytes dysfunction. It leads to an increased risk of developing autoimmune diseases, such as autoimmune thyroiditis, myasthenia gravis, Crohn’s disease, ANA-associated vasculitis. In addition, there is evidence about the association of GB1b and oncological pathologies, such as giant bone cell tumor, acute myeloid leukemia. According to such a wide variety of clinical manifestations, knowledge of the pathogenesis and possible non-metabolic manifestations is necessary for proper diagnostics and therapy.

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About the authors

Ilia A. Gimaev

Pirogov Russian National Research Medical University (RNRMU); Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology

Author for correspondence.
Email: LI143427@mail.ru
ORCID iD: 0000-0002-1477-2373
SPIN-code: 7242-3856

immunologic resident

Russian Federation, Moscow

Valeriya A. Bondar

Pirogov Russian National Research Medical University (RNRMU); Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology

Email: bondva23@gmail.ru
ORCID iD: 0000-0002-3244-463X
Russian Federation, Moscow

E. J. Lushnikova

Pirogov Russian National Research Medical University (RNRMU); Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology

Email: LI143427@mail.ru
ORCID iD: 0000-0001-5185-432X
Russian Federation, Moscow

Ilya V. Borisov

Federal Research and Clinical Center of Intensive Care Medicine and Rehabilitology

Email: realzel@gmail.com
ORCID iD: 0000-0002-5707-118X

Junior researcher

Russian Federation, Moscow

Mikhail M. Kanarskii

Federal Research and Clinical Center of Intensive Care Medicine and Rehabilitology

Email: kanarmm@yandex.ru
ORCID iD: 0000-0002-7635-1048
Russian Federation, Moscow

Julia Yu. Nekrasova

Federal Research and Clinical Center of Intensive Care Medicine and Rehabilitology; Moscow Aviation Institute (National Research University)

Email: nekrasova84@yandex.ru
ORCID iD: 0000-0002-4435-8501
SPIN-code: 8947-4230
Russian Federation, Moscow

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2. Figure: Modern concepts of the pathogenesis of metabolic and non-metabolic disorders in GB1b

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