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Войти в исследования Vestnik otorinolaringologii · 2022
[CHARGE syndrome in children with congenital choanal atresia].
СтатьяНазвание и аннотация: Перевод в очереди
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Kotova E N, Bogomilsky M R
Аннотация
UNLABELLED: One of the most commonly associated genetic syndromes with congenital choanal atresia is CHARGE syndrome, which includes multiple congenital anomalies with variable phenotypic manifestations. The article presents data on the history of the study, prevalence, etiology and clinical criteria of this pathology.
OBJECTIVE: To determine the frequency of detection and features of clinical manifestations of CHARGE syndrome in children with congenital choanal atresia.
MATERIAL AND METHODS: Based on the literature data and our own research, the features of the clinical manifestations of CHARGE syndrome in children with congenital choanal atresia are presented.
RESULTS: The association of malformations, which in most cases had bilateral localization, was detected in 27 (18.8%) patients with congenital choanal atresia. In 20 children, the analysis for the presence of the CHD7 mutation was carried out by sequencing, while CHD7 mutations were detected in 18 (90%) patients meeting the clinical criteria of CHARGE syndrome. The absence of mutations of the CHD7 gene in the remaining patients indicates the genetic heterogeneity of this syndrome.
CONCLUSION: The detection of CHARGE syndrome in children with congenital choanal atresia is of great clinical importance, since timely diagnosis and correction of other pathology minimizes the chance of complications during surgical treatment and allows for the formation of individual routing of patients for treatment and rehabilitation. Therefore, the examination and management of children with congenital choanal atresia associated with other malformations should be carried out on the basis of an interdisciplinary approach.
OBJECTIVE: To determine the frequency of detection and features of clinical manifestations of CHARGE syndrome in children with congenital choanal atresia.
MATERIAL AND METHODS: Based on the literature data and our own research, the features of the clinical manifestations of CHARGE syndrome in children with congenital choanal atresia are presented.
RESULTS: The association of malformations, which in most cases had bilateral localization, was detected in 27 (18.8%) patients with congenital choanal atresia. In 20 children, the analysis for the presence of the CHD7 mutation was carried out by sequencing, while CHD7 mutations were detected in 18 (90%) patients meeting the clinical criteria of CHARGE syndrome. The absence of mutations of the CHD7 gene in the remaining patients indicates the genetic heterogeneity of this syndrome.
CONCLUSION: The detection of CHARGE syndrome in children with congenital choanal atresia is of great clinical importance, since timely diagnosis and correction of other pathology minimizes the chance of complications during surgical treatment and allows for the formation of individual routing of patients for treatment and rehabilitation. Therefore, the examination and management of children with congenital choanal atresia associated with other malformations should be carried out on the basis of an interdisciplinary approach.