儿童自发性气胸提示 Birt-Hogg-Dubé 综合征。
Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients.
机构信息
Department of Pulmonary Diseases, VU University Medical Center, PO Box 7057, 1007, MB Amsterdam, The Netherlands.
出版信息
BMC Pediatr. 2014 Jul 3;14:171. doi: 10.1186/1471-2431-14-171.
BACKGROUND
Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominantly inherited disorder caused by germline mutations in the folliculin (FLCN) gene. Clinical manifestations of BHD include skin fibrofolliculomas, renal cell cancer, lung cysts and (recurrent) spontaneous pneumothorax (SP). All clinical manifestations usually present in adults > 20 years of age.
CASE PRESENTATIONS
Two non-related patients with (recurrent) pneumothorax starting at age 14 accompanied by multiple basal lung cysts on thoracic CT underwent FLCN germline mutation analysis. A pathogenic FLCN mutation was found in both patients confirming suspected BHD. The family history was negative for spontaneous pneumothorax in both families.
CONCLUSION
Although childhood occurrence of SP in BHD is rare, these two cases illustrate that BHD should be considered as cause of SP in children.
背景
Birt-Hogg-Dubé 综合征（BHD）是一种罕见的常染色体显性遗传疾病，由滤泡素（FLCN）基因突变引起。BHD 的临床表现包括皮肤纤维毛囊瘤、肾细胞癌、肺囊肿和（复发性）自发性气胸（SP）。所有临床表现通常在>20 岁的成年人中出现。
病例介绍
两名 14 岁开始出现（复发性）气胸且胸部 CT 显示多发性基底肺囊肿的非亲属患者，行 FLCN 种系突变分析。在这两名患者中均发现了致病性 FLCN 突变，证实了疑似 BHD。两个家族的气胸家族史均为阴性。
结论
尽管 BHD 患儿中 SP 的发病年龄较小，但这两例病例说明，BHD 也应考虑为儿童 SP 的病因。
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