persmedРоссийский журнал персонализированной медициныRussian Journal for Personalized Medicine2782-38062782-3814ФОНД АЛМАЗОВА10.18705/2782-3806-2024-4-4-313-318GQMIXCpersmed-276Research ArticleПЕДИАТРИЯPAEDIATRICSКлинический случай инфантильной формы ТК-2-ассоциированной миопатии, успехи терапии нуклеозидамиClinical case of infantile form of TK-2 associated myopathy, success of nucleoside therapyМамаеваЕ. А.MamaevaE. A.

Екатерина Александровна Мамаева, врач-невролог

Санкт-Петербург

Ekaterina A. Mamaeva, MD, neurologist

Saint Petersburg

АртамоноваИ. Н.ArtamonovaI. N.

Ирина Никитична Артамонова, младший научный сотрудник

Институт перинатологии и педиатрии; НИЛ физиологии и патологии новорожденных 

Санкт-Петербург

Irina N. Artamonova, MD, junior researcher

Institute of Perinatology and Pediatrics; Research Laboratory of Physiology and Pathology of Newborns

Saint Petersburg

ПетроваН. А.PetrovaN. A.

Наталья Александровна Петрова, к. м. н., доцент, заведующий НИЛ

Институт перинатологии и педиатрии; НИЛ физиологии и патологии новорожденных

197341; ул. Аккуратова, д. 2; Санкт-Петербург

Natalia A. Petrova, MD, PhD, Associate Professor, Head of the Laboratory

Institute of Perinatology and Pediatrics; Research Laboratory of Physiology andPathology of Newborns

197341; Akkuratova str., 2; Saint Petersburg

natalja5@yandex.ruКолбинаН. Ю.KolbinaN. Yu.

Наталья Юрьевна Колбина, заведующий отделением

Детский лечебно-реабилитационный комплекс; отделение педиатрии и медицинской реабилитации 

Санкт-Петербург

Natalia Yu. Kolbina, MD, Head of the Department

Children’s Treatment and Rehabilitation Complex; Department of Pediatrics and Medical Rehabilitation

Saint Petersburg

ПервунинаТ. М.PervuninaT. M.

Татьяна Михайловна Первунина, д. м. н., доцент, директор Института

Институт перинатологии и педиатрии

Санкт-Петербург

Tatyana M. Pervunina, MD, Doctor of Medical Sciences, Associate Professor, Director of the Institute

Institute of Perinatology and Pediatrics

Saint Petersburg

Федеральное государственное бюджетное учреждение «Национальный медицинский исследовательский центр имени В. А. Алмазова» Министерства здравоохранения Российской ФедерацииРоссияAlmazov National Medical Research CentreRussian Federation20241309202444313318Copyright © Мамаева Е.А., Артамонова И.Н., Петрова Н.А., Колбина Н.Ю., Первунина Т.М., 20242024Мамаева Е.А., Артамонова И.Н., Петрова Н.А., Колбина Н.Ю., Первунина Т.М.Mamaeva E.A., Artamonova I.N., Petrova N.A., Kolbina N.Y., Pervunina T.M.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://persmed.elpub.ru/jour/article/view/276

   ТK2­-ассоциированная митохондриальная миопатия — клинически гетерогенное аутосомно­рецессивное заболевание, характеризующееся преимущественно миопатическим фенотипом с вариабельным возрастом дебюта. Выделяют 3 основные клинические формы в зависимости от возраста дебюта: инфантильная, детская (ювенильная) и с поздним началом (взрослая). В статье представлено описание клинического слу­чая пациента с инфантильной формой заболевания со значительным положительным эффектом на фоне патогенетической терапии нуклеозидами.

   TK2­-associated mitochondrial myopathy is a clinically heterogeneous autosomal recessive disease characterized by a predominantly myopathic phenotype with variable age of onset. There are 3 main clinical forms depending on the age of onset: infantile, childhood (juvenile) and late onset (adult). The article presents a description of a clinical case of a patient with an infantile form of the disease with a significant positive effect of pathogenetic therapy with nucleosides.

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Deoxynucleoside therapy for respiratory involvement in adult patients with thymidine kinase 2-deficient myopathy. BMJ Open Respir Res. November 2020;7(1):e000774.Hernandez-Voth A, Sayas Catalan J, Corral Blanco M, et al. Deoxynucleoside therapy for respiratory involvement in adult patients with thymidine kinase 2-deficient myopathy. BMJ Open Respir Res. November 2020;7(1):e000774.de Fuenmayor-Fernández de la Hoz CP, Morís G, Jiménez-Mallebrera C, et al. Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency. Mol Genet Metab Rep. March 2021;26:100701.de Fuenmayor-Fernández de la Hoz CP, Morís G, Jiménez-Mallebrera C, et al. Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency. Mol Genet Metab Rep. March 2021;26:100701.Domínguez-González C, Hernández-Laín A, Rivas E, et al. Late-onset thymidine kinase 2 deficiency : a review of 18 cases. Orphanet J Rare Dis. 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The authors declare that there are no conflicts of interest present.