Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2013
Is there relation between COL4A1/A2 mutations and antenatally detected fetal intraventricular hemorrhage?
СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Kutuk Mehmet Serdar, Balta Burhan, Kodera Hirofumi, Matsumoto Naomichi, Saitsu Hirotomo, Doganay Selim, Canpolat Mehmet, Dolanbay Mehmet, Unal Ekrem, Dundar Munis
Аннотация
BACKGROUND: The aim of the present study is to evaluate the role of COL4A1/A2 mutations in the etiology of intraventricular hemorrhage (IVH) detected in-utero.
METHODS: The data of four cases with fetal IVH were analyzed retrospectively. Antenatal risk factors, clinical features, postnatal outcome, and the presence of COL4A1/A2 mutations were evaluated.
RESULTS: Eight cases of fetal IVH were diagnosed between 2005 and 2012 in Erciyes University. Of these, four were eligible for genetic analysis. Mean gestational age at diagnosis was 30 weeks 5 day (min-max: 28-34 weeks); two cases had grade III hemorrhage and two cases had grade IV hemorrhage according to fetal magnetic resonance imaging. Three cases had severe neurodevelopmental delay and one case had mild deficit. In all cases, postnatal evaluation revealed no underlying cause, and no retinal hemorrhagia and hematuria were detected. The mean postnatal follow-up was 19 months, and no recurrent hemorrhages and porencephalic cyst formation were observed. The whole exome sequencing showed no pathological mutations of COL4A1 and COL4A2 in the four patients.
CONCLUSION: Our data showed that fetal intraventricular hemorrhage is not associated with COL4A1 and COL4A2 mutations in the absence of porencephaly, recurrent hemorrhage, and other organ bleeding.
METHODS: The data of four cases with fetal IVH were analyzed retrospectively. Antenatal risk factors, clinical features, postnatal outcome, and the presence of COL4A1/A2 mutations were evaluated.
RESULTS: Eight cases of fetal IVH were diagnosed between 2005 and 2012 in Erciyes University. Of these, four were eligible for genetic analysis. Mean gestational age at diagnosis was 30 weeks 5 day (min-max: 28-34 weeks); two cases had grade III hemorrhage and two cases had grade IV hemorrhage according to fetal magnetic resonance imaging. Three cases had severe neurodevelopmental delay and one case had mild deficit. In all cases, postnatal evaluation revealed no underlying cause, and no retinal hemorrhagia and hematuria were detected. The mean postnatal follow-up was 19 months, and no recurrent hemorrhages and porencephalic cyst formation were observed. The whole exome sequencing showed no pathological mutations of COL4A1 and COL4A2 in the four patients.
CONCLUSION: Our data showed that fetal intraventricular hemorrhage is not associated with COL4A1 and COL4A2 mutations in the absence of porencephaly, recurrent hemorrhage, and other organ bleeding.