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新生儿筛查后诊断出的无症状囊性纤维化婴儿的支气管扩张症。

Bronchiectasis in an asymptomatic infant with cystic fibrosis diagnosed following newborn screening.

作者信息

Mott Lauren S, Gangell Catherine L, Murray Conor P, Stick Stephen M, Sly Peter D

机构信息

Division of Clinical Sciences, Telethon Institute for Child Health Research and Centre for Child Health Research, University of Western Australia, PO Box 855, West Perth, WA, 6872, Australia.

出版信息

J Cyst Fibros. 2009 Jul;8(4):285-7. doi: 10.1016/j.jcf.2009.04.009. Epub 2009 May 15.

Abstract

Many countries have introduced newborn screening for cystic fibrosis to facilitate diagnosis prior to the development of lung disease. Although most infants with cystic fibrosis are asymptomatic from a respiratory point of view at diagnosis, structural lung disease has been detected by computed tomography. We present a case of an asymptomatic infant with cystic fibrosis diagnosed following newborn screening who had endobronchial infection with Pseudomonas aeruginosa and radiological evidence of bronchiectasis at 3 months of age.

摘要

许多国家已开展囊性纤维化新生儿筛查,以便在肺部疾病发展之前促进诊断。尽管大多数囊性纤维化婴儿在诊断时从呼吸系统角度无症状,但通过计算机断层扫描已检测到结构性肺部疾病。我们报告一例在新生儿筛查后被诊断为囊性纤维化的无症状婴儿病例,该婴儿在3个月大时发生了铜绿假单胞菌支气管内感染并有支气管扩张的影像学证据。

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