■Birt-Hogg-Dubé综合征(BHD),又名Hornstein-Knickenberg综合征,是一种罕见的以肺囊肿为特征的常染色体显性疾病,复发性气胸,肾细胞癌和皮肤纤维囊瘤。
■本研究从所有现有报道病例中总结了中国人BHD患者的临床和遗传信息,并探讨了临床和遗传谱之间的关系,以期改善中国人BHD患者的预后。
■通过搜索PubMed,科克伦图书馆,Embase,OVID药物,SinoMed,WebofScience,中国国家知识基础设施,万方数据和中国医院知识库1977年1月1日至2021年12月31日。搜索策略包括以下术语键:(Birt-Hogg-Dubé综合征或Hornstein-Kinkenberg综合征或家族性肺囊肿或家族性自发性气胸或纤维囊瘤或毛发肉瘤或遗传性肾癌综合征或FLCN)和(中国或中国)。
■总共,本文包括来自31个参考文献中描述的143个家庭的287名中国患者。中国BHD患者倾向于表现出更多的肺部症状,但皮肤病变和肾脏恶性肿瘤较少,与白种人患者相比,这似乎是非典型的。建立了中国BHD患者的FLCN突变谱,以突变热点c.1285depC/delC为最常见的突变。此外,这个突变谱也显示出与其他种族的一些差异,具有相对频繁的大缺失c.872-429_17401763del(外显子9-14缺失)仅在中国个体中报告,但未观察到在日本个体中发现的两个突变热点。我们还试图在中国BHD患者中建立潜在的表型基因型相关性,但是结果是阴性的。
■为了改善BHD患者的预后,医师需要重点关注气胸家族史以及肺囊肿患者的皮肤病变,提高对BHD的认识,并及时为患者提供基因测序建议.
UNASSIGNED: Birt-Hogg-Dubé syndrome (BHD), also named Hornstein-Knickenberg syndrome, is a rare autosomal dominant disease characterized by lung cysts, recurrent pneumothoraxes, renal cell carcinoma and skin fibrofolliculomas.
UNASSIGNED: This study summarizes the clinical and genetic information of Chinese BHD patients from all available reported cases and explores the relationship between the clinical and genetic spectrum in the hope of improving the prognosis of Chinese BHD patients.
UNASSIGNED: Relative studies were collected by searching PubMed, Cochrane Library, Embase, OVID medicine, SinoMed, Web of Science, China National Knowledge Infrastructure, Wanfang Data and China Hospital Knowledge Database from January 1, 1977 to December 31, 2021. The search strategy included the following term keys: (Birt-Hogg-Dubé syndrome OR Hornstein-Kinckenberg syndrome OR familial pulmonary cysts OR familial spontaneous pneumothorax OR fibrofolliculomas OR trichodiscomas OR inherited renal cancer syndromes OR FLCN) AND (Chinese OR China).
UNASSIGNED: In total, 287 Chinese patients from 143 families described in 31 references were included in this article. Chinese BHD patients tended to present more pulmonary symptoms but fewer skin lesions and renal malignancies, which appeared to be atypical when compared with Caucasian patients. The FLCN mutation spectrum among Chinese BHD patients was established with the mutational hot spot c.1285depC/delC as the most frequent mutation. In addition, this mutation spectrum also showed some differences from other races, with a relatively frequent large deletion c.872-429_1740+1763del (exon 9-14 deletion) reported only in Chinese individuals but no observation of the two mutational hot spots found in Japanese individuals. We also attempted to establish potential pheno-genotype correlations in Chinese BHD patients, but the results were negative.
UNASSIGNED: To improve the prognosis of BHD patients, physicians need to increase their awareness of BHD by focusing on the family history of pneumothorax as well as skin lesions in patients with lung cysts and promptly advising patients on genetic sequencing.