perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”perinatology-57Research ArticleНАСЛЕДСТВЕННЫЕ БОЛЕЗНИHEREDITARY DISEASESДефицит ацил-коэнзим А дегидрогеназы жирных кислот с очень длинной углеродной цепьюVery long-chain acyl-coenzyme A dehydrogenase deficiencyДегтяреваА. В.DegtyarevaA. V.

д.м.н., зав. научно-консультативным педиатрическим отделением

НикитинаИ. В.NikitinaI. V.

к.м.н., врач отделения реанимации и интенсивной терапии новорожденных отдела неонатологии и педиатрии

ОрловскаяИ. В.OrlovskayaI. V.

к.м.н., ст.н.с. отделения патологии новорожденных и недоношенных детей

ЗахароваЕ. Ю.ZakharovaE. Yu.

д.м.н. зав. лабораторией наследственных болезней обмена

БайдаковаГ. В.BaidakovaG. V.

к.б.н., ст.н.с. лаборатории наследственных болезней обмена

ИоновО. В.IonovO. V.

к.м.н., зав. отделением реанимации и интенсивной терапии новорожденных отдела неонатологии и педиатрии

АмирхановаД. Ю.AmirkhanovaD. Yu.

врач-невролог научно-консультативного педиатрического отделения

ЛеваднаяА. В.LevadnayaA. V.

к.м.н., врач-неонатолог  научно-консультативного педиатрического отделения

Научный центр акушерства, гинекологии и перинатологии им. В.И. КулаковаРоссияV.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, MoscowRussian FederationМедико-генетический научный центр РАМН, МоскваРоссияMedical Genetics Research Center, MoscowRussian Federation2014040320165944147Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20162016Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/57

Представлено клиническое наблюдение ребенка с тяжелой младенческой формой редкого наследственного заболевания: дефицита ацил-коэнзим А дегидрогеназы жирных кислот с очень длинной углеродной цепью. В основе заболевания лежит нарушение процесса митохондриального β-окисления длинноцепочечных жирных кислот. В результате накопления ацилКоА-производных жиpных кислот происходит токсическое воздействие на сердечную мышцу и проводящую систему сердца, печень, скелетные мышцы и другие органы. Характерно развитие гипогликемии. Лечение в остром периоде заключается в немедленном прекращении поступления длинноцепочечных триглицеридов, обеспечении организма среднецепочечными триглицеридами и коррекции гликемии. В нашем наблюдении ребенок родился в срок в удовлетворительном состоянии в семье с отягощенным анамнезом (первый ребенок внезапно умер в возрасте 3,5 мес). Заболевание манифестировало в возрасте 2 сут жизни брадиаритмией и остановкой сердца. Клинический симптомокомплекс также включал гепатомегалию, эпизоды гипогликемии, лактат-ацидоз, повышение уровня ферментов цитолиза и креатинфосфокиназы в крови. Диагноз был заподозрен на основании высокого уровня ацилкарнитинов в крови (прежде всего С14:1) и подтвержден молекулярно-генетическим исследованием. На фоне посиндромной терапии и лечебного питания отмечалось купирование патологического состояния. К двухлетнему возрасту физическое, моторное и психоречевое развитие ребенка соответствовало возрасту, хотя отмечался правосторонний гемипарез легкой степени выраженности. Таким образом, своевременное начало терапии определяет благоприятный прогноз заболевания даже в случае тяжелых младенческих форм. 

The paper describes a case of a baby with a severe infant form of very long-chain acyl-coenzyme A dehydrogenase deficiency, a very rare genetic disorder. The basis for the disease is a disorder of mitochondrial β-oxidation of long-chain fatty acids. Accumulation of acyl-CoA-derived fatty acids causes a toxic effect on the myocardium and cardiac conduction system, liver, skeletal muscles, and other organs. The development of hypoglycemia is typical. Treatment in the acute period involves the immediately ceased delivery of long-chain triglycerides, the provision of the body with medium-chain triglycerides, and the correction of glycemia. In our observation the baby was born at term with a satisfactory condition in a family with a poor history (the first baby had suddenly died at the age of 3,5 months). The disease manifested itself as bradyarrhythmia and cardiac arrest on day 2 of life. The clinical symptom complex also included hepatomegalia, hypoglycemic episodes, lactate acidosis, and elevated blood levels of cytolytic enzymes and creatine phosphokinase. The diagnosis was suspected on the basis of the high blood values of acylcarnitines (primarily C14:1) and verified by a molecular genetic examination. Syndrome therapy and dietotherapy resulted in the abolishment of the abnormality. At the age of 2 years of life, the infant’s physical, motor, mental, and speech development corresponded to his age although he had mild right-sided hemiparesis. Thus, timely therapy determines the favorable prognosis of the disease even in its severe infant forms. 

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The authors declare that there are no conflicts of interest present.