Results of 15-year neonatal screening in the Republic of North Ossetia-Alania
https://doi.org/10.25557/2073-7998.2023.02.40-47
Abstract
В статье приводятся результаты 15-летнего массового обследования новорожденных на пять наследственных заболеваний в Республике Северная Осетия-Алания (РСОА).
Цели настоящей публикации – оценить эффективность неонатального скрининга, а также изучить эпидемиологические и молекулярно-генетические особенности патологии в регионе в период с 2007 по 2021 гг.
Проведен ретроспективный анализ результатов скрининга, а также анализ медицинских карт пациентов с фенилкетонурией (ФКУ), врожденным гипотиреозом (ВГ), муковисцидозом (МВ), галактоземией (ГАЛ) и врожденной дисфункцией коры надпочечников (ВДКН). Выявленные клинико-эпидемиологические особенности скринируемых заболеваний позволяют отнести РСОА к регионам со средней частотой встречаемости ФКУ, МВ и ГАЛ и высокой частотой встречаемости ВГ и ВДКН. Определены специфический спектр и частоты мутаций пациентов с ФКУ, МВ. Уникальностью исследования стало обнаружение редкой формы ВДНК, ассоциированной с мутаций в гене HSD3B2. В целом же программу неонатального скрининга в РСОА следует признать важным, актуальным и эффективным методом ранней доклинической диагностики наследственных болезней.
Перенести в английский вариант
The article presents the results of a 15-year mass examination of newborns for five hereditary diseases in the Republic of North Ossetia Ossetia-Alania.
The purpose of this publication is to evaluate the effectiveness of neonatal screening, as well as to study the epidemiological and molecular genetic features of pathology in the region from 2007 to 2021.
A retrospective analysis of the results of the study was carried out, as well as an analysis of the medical records of patients with phenylketonuria (PKU), congenital hypothyroidism (CН), cystic fibrosis (CF), galactosemia (GAL), and congenital adrenal dysfunction (CАD). The revealed clinical and epidemiological features of the screened diseases make it possible to attribute North Ossetia-Alania to regions with an average incidence of PKU, CF and GAL and a high incidence of CH and CAD. The specific range and frequencies of mutations in patients with PKU, CF were determined. The uniqueness of the study was the discovery of a rare form of CAD associated with mutations in the HSD3B2 gene. In general, the implementation of the neonatal screening program in North Ossetia-Alania should be recognized as an important, relevant and effective method of early preclinical diagnosis of hereditary diseases.
Keywords
neonatal screening,
phenylketonuria,
congenital hypothyroidism,
cystic fibrosis,
galactosemia,
congenital adrenal dysfunction
Supporting agencies: The study had no sponsorship
About the Authors
I. S. Tebieva
North-Ossetian State Medical Academy, Ministry of Нealth of Russia; Medical-Genetic Consultation of Republican Children’s Clinical Hospital of the Republic of North Ossetia-Alania
Russian Federation
Russian Federation
362007
40, Pushkinskaya str.
362003
33, Barbashova str.
Vladikavkaz
Y. V. Gabisova
Medical-Genetic Consultation of Republican Children’s Clinical Hospital of the Republic of North Ossetia-Alania
Russian Federation
Russian Federation
362003
33, Barbashova str.
Vladikavkaz
R. A. Zinchenko
Research Center for Medical Genetic; Nationa Research Institute of Public Health
Russian Federation
Russian Federation
115522
1, Moskvorechye str.
105064
1-12, Vorontsovo Pole str.
Moscow
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Review
For citations:
Tebieva I.S., Gabisova Y.V., Zinchenko R.A. Results of 15-year neonatal screening in the Republic of North Ossetia-Alania. Medical Genetics. 2023;22(2):40-47. (In Russ.) https://doi.org/10.25557/2073-7998.2023.02.40-47
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