Variable clinical outcome of ABCA3 deficiency in two siblings

被引：13
作者：
Thavagnanam, Surendran [1 ,2 ,5 ]
Cutz, Ernest [2 ,3 ]
Manson, David [2 ,3 ]
Nogee, Lawrence M. [2 ,4 ]
Dell, Sharon D. [1 ,2 ]
机构：
[1] Hosp Sick Children, Div Resp Med, Toronto, ON M5G 1X8, Canada
[2] Univ Toronto, Toronto, ON, Canada
[3] Hosp Sick Children, Toronto, ON M5G 1X8, Canada
[4] Johns Hopkins Med Inst, Eudowood Neonatal Pulm Div, Baltimore, MD 21205 USA
[5] Univ Malaya, Med Ctr, Dept Pediat Resp Med, Kuala Lumpur, Malaysia
来源：
PEDIATRIC PULMONOLOGY | 2013年 / 48卷 / 10期
基金：
美国国家卫生研究院;
关键词：
pediatric; respiratory; ABCA3; FATAL SURFACTANT DEFICIENCY; INTERSTITIAL PNEUMONIA; PULMONARY SURFACTANT; LUNG-DISEASE; II CELLS; MUTATIONS; TRANSPORTER; CHILDREN; CLASSIFICATION; MUTANTS;
D O I：
10.1002/ppul.22698
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
This case report describes an unusual outcome of ABCA3 deficiency with resolution of symptoms, normalization of chest imaging and lung function in a 9-year-old child whose sibling died of the same disease in infancy. Pediatr Pulmonol. 2013; 48:1035-1038. (c) 2013 Wiley Periodicals, Inc.
引用
收藏
页码：1035 / 1038
页数：4
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