vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v22i4.2611vsp-3267Research ArticleОБЗОР ЛИТЕРАТУРЫREVIEWПсихоневрологические нарушения у детей с врожденной аниридией и PAX6-ассоциированными синдромамиPsychoneurological Disorders in Children with Congenital Aniridia and PAX6-Associated Syndromeshttps://orcid.org/0000-0002-9816-6919КуприяноваО. С.KupriyanovaOlga S.

Куприянова Ольга Сергеевна - врач-невролог, младший научный сотрудник.

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makarenok-kuprik@yandex.ruhttps://orcid.org/0000-0002-8540-3858КаркашадзеГ. А.KarkashadzeGeorge A.

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https://orcid.org/0000-0001-6614-6115ЖурковаН. В.ZhurkovaNatalia V.

Москва

Moscow

https://orcid.org/0000-0002-2209-7531Намазова-БарановаЛ. С.Namova-BaranovaLeila S.

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https://orcid.org/0000-0003-0818-6906МамедъяровА. М.MamedyarovAyaz M.

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НИИ педиатрии и охраны здоровья детей НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского»РоссияResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of SurgeryRussian Federation202325082023224305310Copyright © Куприянова О.С., Каркашадзе Г.А., Журкова Н.В., Намазова-Баранова Л.С., Мамедъяров А.М., 20232023Куприянова О.С., Каркашадзе Г.А., Журкова Н.В., Намазова-Баранова Л.С., Мамедъяров А.М.Kupriyanova O.S., Karkashadze G.A., Zhurkova N.V., Namova-Baranova L.S., Mamedyarov A.M.This work is licensed under a Creative Commons Attribution 4.0 License.https://vsp.spr-journal.ru/jour/article/view/3267

Врожденная аниридия проявляется полным или частичным отсутствием радужной оболочки глаза. Доказана связь заболевания с геном PAX6, изменения структуры которого приводят к внутриутробной патологии формирования органа зрения и нарушению функции белков мастер-регуляторов органогенеза, влияющих на дифференцировку клеток разного происхождения, в том числе и клеток центральной нервной системы. Указанные нарушения способствуют развитию PAX6-ассоциированных синдромов с различными пороками развития головного мозга, неврологическими нарушениями и другой системной патологией (патология щитовидной железы, опухоль Вильмса, нарушения толерантности к глюкозе). Изолированная врожденная аниридия также сопровождается психоневрологическими нарушениями, что связано с нарушениями в структуре головного мозга в процессе эмбриогенеза и воздействием на ребенка внешних стрессовых факторов (частые диспансерные наблюдения, оперативные вмешательства). Патогенез психоневрологических нарушений и генетических механизмов развития врожденной аниридии остается недостаточно изученным. В этой связи актуальным является обзор новой информации в контексте ранее полученных сведений с целью получения более полных представлений о клинической картине заболевания и совершенствования тактики ведения детей с врожденной аниридией.

Congenital aniridia manifests with total or partial absence of the iris. The association of the disease with the PAX6 gene has been proven. Changes in the PAX6 structure lead to intrauterine pathology, visual organ malformation, malformation of master regulator proteins of organogenesis affecting various cells’ differentiation (central nervous system cells included). Such disorders result into the development of PAX6-associated syndromes with various brain malformations, neurological disorders, and systemic pathology (thyroid pathology, Wilms tumor, glucose intolerance). Isolated congenital aniridia is also accompanied by psychoneurological disorders. It can be associated with brain structures’ disorders during embryogenesis and with impact of external stress factors on the child (frequent medical checkup, surgical treatments). The psychoneurological disorders’ pathogenesis as well as congenital aniridia’s genetic mechanisms remain unclear. Thus, it is crucial to review new relevant data within the context of previously obtained information to gather full picture of the clinical signs of the disease and to improve the management of children with congenital aniridia.

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