文摘
作品简介:肌强直性营养不良1型(DMT1)是一种遗传性肌肉疾病,患病率1-9/100 000临床表现和变量。可能与呼吸有关儿童参与。目标和目的:呼吸道DMT1儿科患者的特征。方法:研究在儿科医院占地230万居民。描述性和临床记录病人的回顾性分析2013年1月- 1985年2月之间。评价:性别、年龄、遗传、呼吸道症状、辅助检查、治疗和随访。结果:18例随访。十,基因证实,被称为肺学咨询男性(7):2新生儿;1、27个月和7青少年。给出的新生儿呼吸衰竭需要无创性通气。 One died at 22 months (M) and the other maintained NIV during 27M, abandoning thereafter. The toddler snored and had recurrent respiratory infections. Polysomnography (PSG) showed obstructive hypoventilation. He goes on ventilated for 105M with good compliance and no respiratory symptoms. Adolescents were referred between 9-14 years: 5 snored; 1 had excessive daytime sleepiness. Two began NIV for sleep apnea and obstructive hypoventilation, maintaining it with good compliance and clinical response. The remaining have been followed for 2-15M. PSG already performed in 2 showed sleep respiratory disturbance. Conclusion: Most patients showed respiratory involvement as neonatal respiratory failure or sleep respiratory disorder. Even in the absence of respiratory symptoms assessment must include PSG. NIV was used with good compliance and favourable response.
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