Pulmonary manifestations of Birt-Hogg-Dubé syndrome.
Pulmonary manifestations of Birt-Hogg-Dubé syndrome.
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DOI：
10.1007/s10689-013-9660-9
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发表时间：
2013-09
期刊：
影响因子：
2.2
通讯作者：
McCormack, Francis X.
中科院分区：
文献类型：
--
作者：
Gupta, Nishant;Seyama, Kuniaki;McCormack, Francis X.
Birt-Hogg-Dubé综合征（BHD）是一种罕见的常染色体显性遗传疾病，以毛囊肿瘤、肾脏肿瘤和肺囊肿为特征。BHD是由位于17号染色体上的卵泡素（FLCN）基因中的杂合，主要是截短突变引起的，该基因编码高度保守的肿瘤抑制蛋白。尽管低恶性潜能肾肿瘤的管理是纵向护理的主要重点，但肺部表现（包括囊肿形成和自发性气胸）是BHD最常见的表现。由于缺乏认识，BHD的肺部诊断通常会延迟，患者经常被错误标记为患有慢性阻塞性肺病、肺气肿或常见的大疱/大疱。35%的BHD患者有气胸家族史.囊肿的某些影像学特征，包括大小、基底和外周优势、血管周围和间隔周围定位以及椭圆形或豆状形状，可提示仅基于胸部CT扫描检查的BHD诊断。复发性气胸很常见，建议早期行胸膜固定术。需要更好地了解FLCN在肺囊肿形成中的作用，并进行长期研究以确定BHD肺部表现的自然史。
Birt-Hogg-Dubé syndrome (BHD) is a rare, autosomal dominant disorder characterized by the development of hair follicle tumors, renal tumors and pulmonary cysts. BHD is caused by heterozygous, predominantly truncating mutations in the folliculin (FLCN) gene located on chromosome 17, which encodes a highly conserved tumor suppressor protein. Although management of renal tumors of low malignant potential is the primary focus of longitudinal care, pulmonary manifestations including cyst formation and spontaneous pneumothorax are among the most common manifestations in BHD. Due to the lack of awareness, there is commonly a delay in the pulmonary diagnosis of BHD and patients are frequently mislabeled as having chronic obstructive lung disease, emphysema or common bullae/blebs. A family history of pneumothorax is present in 35 % of patients with BHD. Certain imaging characteristics of the cysts, including size, basilar and peripheral predominance, perivascular and periseptal localization, and elliptical or lentiform shape can suggest the diagnosis of BHD based on inspection of the chest CT scan alone. Recurrent pneumothoraces are common and early pleurodesis is recommended. A better understanding of role of FLCN in pulmonary cyst formation and long term studies to define the natural history of the pulmonary manifestations of BHD are needed.
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影响因子：
8
作者：
Hartman, T. R.;Nicolas, E.;Klein-Szanto, A.;Al-Saleem, T.;Cash, T. P.;Simon, M. C.;Henske, E. P.
通讯作者：
Henske, E. P.
影响因子：
2.2
作者：
Koga, Shunsuke;Furuya, Mitsuko;Nakatani, Yukio
通讯作者：
Nakatani, Yukio
DOI：
10.1007/bf00582068
发表时间：
1975-01-01
期刊：
ARCHIV FUR DERMATOLOGISCHE FORSCHUNG
影响因子：
--
作者：
HORNSTEIN, OP;KNICKENBERG, M
通讯作者：
KNICKENBERG, M
DOI：
10.1164/rccm.200501-143oc
发表时间：
2005-07-01
影响因子：
24.7
作者：
Graham, RB;Nolasco, M;Garcia, CK
通讯作者：
Garcia, CK
影响因子：
4
作者：
Gunji, Yoko;Akiyoshi, Taeko;Seyama, Kuniaki
通讯作者：
Seyama, Kuniaki