Type Ib glycogenosis: diagnosis, features of clinical manifestations

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The article provides a clinical case of a child with type Ib glycogenosis, the early symptoms of type Ib glycogenosis are described - neutropenia, infectious complications (recurrent boils), poor weight gain in the first months of life. Attention was focused on the alertness of pediatrician doctors regarding non-specific clinical signs of the disease. The considered clinical case demonstrates the importance of a multidisciplinary approach to leading patients with glycogenosis Ib to prevent severe metabolic and infectious complications.

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作者简介

N. Ilyenkova

Prof. V.F. Voino-Yasenetsky Krasnoyarsk State Medical University, Ministry of Health of Russia

Email: olya_tyutina@mail.ru
ORCID iD: 0000-0001-8058-7806
SPIN 代码: 1842-8943

Professor, MD

俄罗斯联邦, Krasnoyarsk

O. Konopleva

Prof. V.F. Voino-Yasenetsky Krasnoyarsk State Medical University, Ministry of Health of Russia

编辑信件的主要联系方式.
Email: olya_tyutina@mail.ru
ORCID iD: 0000-0002-7203-7131
SPIN 代码: 5609-5567

Сandidate of Medical Sciences

俄罗斯联邦, Krasnoyarsk

E. Neiman

Prof. V.F. Voino-Yasenetsky Krasnoyarsk State Medical University, Ministry of Health of Russia

Email: olya_tyutina@mail.ru
ORCID iD: 0000-0002-2682-8362
SPIN 代码: 7432-2663

Сandidate of Medical Sciences

俄罗斯联邦, Krasnoyarsk

E. Volnistova

I.S. Berzon Krasnoyarsk Interdistrict Clinical Hospital No. 20

Email: olya_tyutina@mail.ru
俄罗斯联邦, Krasnoyarsk

E. Khaliulina

I.S. Berzon Krasnoyarsk Interdistrict Clinical Hospital No. 20

Email: olya_tyutina@mail.ru
俄罗斯联邦, Krasnoyarsk

参考

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  2. Гимаев И.А., Щербина А.Ю. Cовременные взгляды на иммунопатологические аспекты и методы терапии гликогеновой болезни 1b типа. Педиатрия. 2019; 98 (3): 253–7 [Gimaev IA, Shcherbina AYu. Modern views on immunopathological aspects and methods of therapy of glycogen disease type 1 and type 2. Pediatrics. 2019; 98 (3): 253–7 (in Russ.)]. doi: 10.24110/0031-403X-2019-98-3-253-257
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  7. Kaczor M., Wesół-Kucharska D., Greczan M. et al. Clinical characteristics and long-term outcomes of patients with glycogen storage disease type 1b: a retrospective multi-center experience in Poland. Pediatr Endocrinol Diabetes Metab. 2022; 28 (3): 207–12. doi: 10.5114/pedm.2022.116115
  8. Строкова Т.В., Прохорова И.В., Сурков А.Г. и др. Непрерывное мониторирование гликемии у детей с гликогенозами. Альманах клинической медицины. 2017; 45 (1): 23–32 [Strokova T.V., Prokhorova I.V., Surkov A.G. et al. Continuous monitoring of glycemia in children with glycogenoses. The Almanac of Clinical Medicine. 2017; 45 (1): 23–32 (in Russ.)]. doi: 10.18786/2072-0505-2017-45-1-23-32

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