ABCA3 lung disease in an ex 27 week preterm infant responsive to systemic glucocorticosteroids
ABCA3 lung disease in an ex 27 week preterm infant responsive to systemic glucocorticosteroids
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DOI：
10.1002/ppul.23260
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发表时间：
2016-01-01
影响因子：
3.1
通讯作者：
Schultz, Andre
中科院分区：
文献类型：
--
作者：
Tan, Jason K. G.;Murray, Conor;Schultz, Andre
我们提出了一个婴儿出生在近28周的妊娠，发现是纯合子的错义突变ABCA 3，弥漫性肺病，一直持续到整个婴儿期。患者的临床病程和胸部影像学高度提示婴儿期弥漫性肺病，而不是早产儿慢性肺病。肺部疾病被证明是高度响应全身皮质类固醇。这是一例ABCA 3型肺病，经全身性糖皮质激素治疗后得到改善。小儿肺醇。2016;51：E1-E3。(c)2015 Wiley Periodicals，Inc.
We present a case of an infant born at almost 28 weeks gestation, found to be homozygous for a missense mutation of ABCA3, with diffuse lung disease that has continued throughout infancy. The patient's clinical course and chest imaging was highly suggestive of diffuse lung disease of infancy, and not of chronic lung disease of prematurity. The lung disease proved to be highly responsive to systemic corticosteroids. This is a case of ABCA3 lung disease that demonstrated improvement after systemic glucocorticosteroid administration. Pediatr Pulmonol. 2016;51:E1-E3. (c) 2015 Wiley Periodicals, Inc.