Pulmonary Medicine, GB Morgagni Hospital, Forlì, Italy.
Respir Med. 2011 May;105(5):768-74. doi: 10.1016/j.rmed.2011.01.002. Epub 2011 Feb 26.
to describe clinical, radiologic and pathologic features of lung lesions in Birt-Hogg-Dubè syndrome (BHDS) (MIM 135150).
review of 12 patients of BHDS from 3 unrelated Italian families evaluated at GB Morgagni Hospital, Forlì, from 2005 to 2010.
mean age (±SD) at diagnosis was 44.6 (±16) years, 8 (66%) were male. All three index cases presented with a history of recurrent pneumothorax and/or cystic lung lesions evaluated by CT scan request by referring pulmonary physicians, none were diagnosed to have BHDS at the time of initial pulmonary evaluation. One of the three cases was a middle-aged female patient with a clinical phenotype indistinguishable from lymphangioleiomyomatosis (LAM), characterized by cystic lung lesions and kidney angiomyolipoma. In one case of BHDS presenting with recurrent pneumothorax and a solitary lung nodule, surgical lung resection revealed a pulmonary histiocytoma. In one case a novel mutation of BHD gene was detected (c.771 del, exon 7).
BHDS is associated with cystic lung disease largely under-recognized by pulmonary physicians and can mimic LAM and may be associated with lung tumor, pulmonary histiocytoma. In one case we found a novel mutation in exon 7, c.771 del (ref.seq. NM_144997.5) never reported before.
描述肺病变在 Birt-Hogg-Dubé 综合征（BHDS）（MIM 135150）的临床，影像学和病理学特征。
回顾性分析了 2005 年至 2010 年在意大利福里的 GB Morgagni 医院评估的 3 个无关意大利家族的 12 例 BHDS 患者。
诊断时的平均年龄（±SD）为 44.6（±16）岁，8 例（66％）为男性。所有 3 个索引病例均有复发性气胸和/或囊性肺病变的病史，由肺部医生通过 CT 扫描请求评估，最初肺部评估时均未诊断为 BHDS。这 3 个病例中有 1 个是中年女性患者，其临床表现与淋巴管平滑肌瘤病（LAM）无法区分，其特征是囊性肺病变和肾脏血管平滑肌脂肪瘤。在 BHDS 复发性气胸和孤立性肺结节的 1 例中，手术肺切除显示为肺组织细胞瘤。在 1 例中发现了 BHD 基因的新突变（c.771del，外显子 7）。
BHDS 与囊性肺病有关，而囊性肺病很大程度上被肺部医生所忽视，可模拟 LAM ，并可能与肺肿瘤，肺组织细胞瘤有关。在 1 例中，我们在外显子 7 中发现了一个新的突变 c.771del（ref.seq.NM_144997.5），以前从未报道过。
