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Наследственная тирозинемия 1-го типа у детей

https://doi.org/10.21508/1027-4065-2019-64-5-69-83

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Аннотация

К наследственным нарушениям обмена веществ относится группа заболеваний (более 400), при которых дефект того или иного гена изменяет метаболический процесс, что приводит либо к накоплению нежелательных метаболитов, либо к дефициту какого-либо вещества. К этой группе заболеваний относится и наследственная тирозинемия 1-го типа – тяжелое нарушение обмена тирозина, вызванное дефицитом фермента фумарилацетоацетатгидролазы (fumarylacetoacetate hydrolase – FAH), – последнего фермента катаболического пути тирозина. Тирозинемия 1-го типа является аутосомно-рецессивным заболеванием. В работе представлен обзор литературы, содержащей современные сведения о диагностике и подходах к терапии тирозинемии с использованием нитизинона и низкобелковой диеты, а также собственный анализ клинических проявлений и особенностей лабораторной диагностики наследственной тирозинемии 1-го типа у 17 детей.

Об авторах

Г. В. Волынец
ОСП «Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева» ФГБОУ ВО РНИМУ им. Н.И. Пирогова Минздрава России
Россия

д.м.н., гл. науч. сотр. отдела гастроэнтерологии,

125412, г. Москва, ул. Талдомская, д. 2



А. В. Никитин
ФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России
Россия

к.м.н., асс. кафедры гастроэнтерологии факультета дополнительного профессионального образования,

117997, г. Москва, ул. Островитянова, д. 1



Т. А. Скворцова
ФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России; ГБУЗ «Морозовская Детская городская клиническая больница Департамента здравоохранения г. Москвы»
Россия

к.м.н., доц. кафедры гастроэнтерологии; зав. отделением гастроэнтерологии,

117997, г. Москва, ул. Островитянова, д. 1

119049 Москва, 4-й Добрынинский переулок д. 1/9, кор. 17



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Для цитирования:


Волынец Г.В., Никитин А.В., Скворцова Т.А. Наследственная тирозинемия 1-го типа у детей. Российский вестник перинатологии и педиатрии. 2019;64(5):69-83. https://doi.org/10.21508/1027-4065-2019-64-5-69-83

For citation:


Volynets G.V., Nikitin A.V., Skvortsova T.A. Hereditary tyrosinemia type 1 in children. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2019;64(5):69-83. (In Russ.) https://doi.org/10.21508/1027-4065-2019-64-5-69-83

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