简约还是运气不佳：并发的Birt-Hogg-Dubé综合征和结节病。
Parsimony or poor luck: Concurrent Birt-Hogg- Dubé Syndrome and sarcoidosis.
作者信息
Kuhn Brooks, Teckchandani Priyanka, Harper Richart
机构信息
Department of Pulmonology and Critical Care, UC Davis Medical Center.
出版信息
Sarcoidosis Vasc Diffuse Lung Dis. 2017;34(2):194-196. doi: 10.36141/svdld.v34i2.5416. Epub 2017 Apr 28.
Abstract
While sarcoidosis is notorious for myriad manifestations including cystic lung changes, we present a case with both Birt-Hogg-Dubé syndrome (BHD) and pulmonary sarcoidosis. BHD is a rare, autosomal dominant genetic disorder characterized by numerous thin-walled, irregular cysts, but lung function is typically normal otherwise. We present a case with confirmed BHD syndrome and concurrent granulomatous lung disease consistent with sarcoidosis. .
摘要
虽然结节病以包括肺部囊性改变在内的多种表现而闻名，但我们报告了一例同时患有Birt-Hogg-Dubé综合征（BHD）和肺结节病的病例。BHD是一种罕见的常染色体显性遗传病，其特征为众多薄壁、不规则囊肿，但肺功能通常在其他方面正常。我们报告了一例确诊为BHD综合征且并发与结节病相符的肉芽肿性肺病的病例。
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