先天性无虹膜和pax6相关综合征儿童的精神神经障碍

O. Kupriyanova, G. Karkashadze, N. Zhurkova, Leila S. Namova-Baranova, A. Mamedyarov
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引用次数: 0

摘要

先天性无虹膜表现为虹膜全部或部分缺失。该疾病与PAX6基因的关联已被证实。PAX6结构的改变导致宫内病变,视觉器官畸形,器官发生主调控蛋白畸形,影响各种细胞(包括中枢神经系统细胞)的分化。这些疾病导致pax6相关综合征的发展,并伴有各种脑畸形、神经系统疾病和全身病理(甲状腺病理、肾母细胞瘤、葡萄糖耐受不良)。孤立性先天性无虹膜也伴有精神神经障碍。它可能与胚胎发生期间的大脑结构紊乱以及外部压力因素对儿童的影响(频繁的医疗检查、手术治疗)有关。精神神经障碍的发病机制及先天性无虹膜的遗传机制尚不清楚。因此,在先前获得的信息的背景下审查新的相关数据,以收集该疾病的临床体征的全貌,并改善先天性无虹膜儿童的管理是至关重要的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Psychoneurological Disorders in Children with Congenital Aniridia and PAX6-Associated Syndromes
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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