medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2022.05.18-29medgen-2178Research ArticleНАУЧНЫЙ ОБЗОРREVIEWЛечение тирозинемии тип 1: практические аспектыTreatment of tyrosinemia type 1: practical aspectsЗахароваЕ. Ю.ZakharovaE. Yu.labnbo@yandex.ruЗарубинаВ. В.ZarubinaV. V.noemail@neicon.ruКраснощековаН. А.KrasnoshchekovaN. A.noemail@neicon.ruПечатниковаН. Л.PechatnikovaN. L.noemail@neicon.ruКакаулинаВ. С.KakaulinaV. S.noemail@neicon.ruКекееваТ. Н.KekeevaT. N.noemail@neicon.ruБушуеваТ. В.BushuevaT. V.noemail@neicon.ruФГБНУ «Медико-генетический научный центр им. академика Н.П. Бочкова»РоссияResearch Centre for Medical GeneticsRussian FederationГБУЗ г. Москвы «Морозовская детская городская клиническая больница Департамента здравоохранения г. Москвы»РоссияMorozovskaya Children’s City Clinical Hospital of the Department of Healthcare of the City of MoscowRussian FederationФГБНУ «Медико-генетический научный центр им. академика Н.П. Бочкова»; ФГАУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава РоссииРоссияResearch Centre for Medical Genetics; National Medical Research Center for Children’s Health of the Ministry of Health of the Russian FederationRussian Federation2022091220222151829Copyright © Захарова Е.Ю., Зарубина В.В., Краснощекова Н.А., Печатникова Н.Л., Какаулина В.С., Кекеева Т.Н., Бушуева Т.В., 20222022Захарова Е.Ю., Зарубина В.В., Краснощекова Н.А., Печатникова Н.Л., Какаулина В.С., Кекеева Т.Н., Бушуева Т.В.Zakharova E.Y., Zarubina V.V., Krasnoshchekova N.A., Pechatnikova N.L., Kakaulina V.S., Kekeeva T.N., Bushueva T.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/2178

Лечение многих болезней, включенных в программу расширенного скрининга новорожденных, предусматривает обязательное применение диетотерапии. Рекомендуемые подходы к лечению тирозинемии 1 типа (ТИР1) включают в себя назначение специализированных пищевых продуктов, фармакологическое лечение препаратом нитизинон - пероральным ингибитором фермента FAH на пути катаболизма тирозина, и симптоматическое лечение. Диетическое вмешательство с ограничением фенилаланина и тирозина вместе с поддерживающими мерами может облегчить симптомы, но, учитывая высокий риск гепатоцеллюлярной карциномы, излечение этих пациентов до сих пор возможно только использованием трансплантации печени. В 2021 году в Российской Федерации опубликованы клинические рекомендации по лечению этого редкого заболевания. Для обеспечения своевременного лечения необходимо, чтобы практикующий врач, занимающийся лечением пациентов с таким редким заболеванием, как ТИР1, обладал знаниями принципов ведения, а также практических алгоритмов расчета диеты. В данной статье на клинических примерах рассмотрены вопросы, касающиеся ведения в период метаболической декомпенсации и правильного подбора диетотерапии пациентам разного возраста, страдающим ТИР1.

Treatment of many of the diseases in the panel of expanded newborn screening includes dietary therapy. Hereditary tyrosinemia type I (HT-I) is inherited metabolic disease caused by defects in tyrosine metabolism and by a mutation in the gene coding for fumarylacetoacetate hydrolase (FAH). The main clinical features of HT-I are caused by hepatic involvement and renal tubular dysfunction. The recommended treatment approaches for HT-1 are the prescription of specialized nutrition products, pharmacologic treatment with nitisinone, a peroral inhibitor of FAH in the tyrosine catabolic pathway, and symptomatic management. Dietary intervention with restriction of phenylalanine and tyrosine together with supportive measures can ameliorate the symptoms, but given the high risk for hepatocellular carcinoma, a cure for these patients so far is possible only with liver transplantation. In 2021, clinical guidelines for the treatment of this rаre disease were published in Russian Federation. To provide for the timely treatment, it is essential for a practitioner involved in the care patients with such a rare disorder as НТ-1 to have the knowledge of the principles of management, as well as practical algorithms for diet calculation. The article gives a detailed case-based description of management during metabolic decompensation and the choice of dietary therapy for HT-1 patients of different age groups.

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