一名儿童患有的伴有肺结节的布劳综合征。
Blau syndrome with pulmonary nodule in a child.
作者信息
Su Jinping, Liu Donghua
机构信息
Department of Dermatology/Venerology, the First Affiliated Hospital of Guangxi Medical University, Nanning, China.
出版信息
Australas J Dermatol. 2021 May;62(2):217-220. doi: 10.1111/ajd.13551. Epub 2021 Mar 19.
PMID:33742458
Abstract
Blau syndrome (BS) is a rare monogenic disease caused by mutation of NOD2/CARD15 gene. A case of Blau syndrome in a 4-year-old Chinese boy c.1001G > A(p.R334Q) mutation in the NOD2 genes reported. Imaging revealed a nodule at the tip of the right lung.
摘要
布劳综合征（BS）是一种由NOD2/CARD15基因突变引起的罕见单基因疾病。报道了一名4岁中国男孩发生布劳综合征，其NOD2基因存在c.1001G>A（p.R334Q）突变。影像学检查显示右肺尖有一个结节。
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