Birt-Hogg-Dubé综合征患儿气胸：一项队列研究及文献综述
Childhood pneumothorax in Birt-Hogg-Dubé syndrome: A cohort study and review of the literature.
作者信息
Geilswijk Marianne, Bendstrup Elisabeth, Madsen Mia Gebauer, Sommerlund Mette, Skytte Anne-Bine
机构信息
Department of Clinical Genetics, Aarhus University Hospital, Aarhus N, Denmark.
Department of Respiratory Disease and Allergy, Aarhus University Hospital, Aarhus C, Denmark.
出版信息
Mol Genet Genomic Med. 2018 May;6(3):332-338. doi: 10.1002/mgg3.373. Epub 2018 Feb 13.
BACKGROUND
Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominantly inherited cancer predisposition syndrome associated with an increased risk of spontaneous pneumothorax (SP) and renal cell carcinoma in the adult population. Recent studies suggest that BHD accounts for up to 10% of all SP in adults and BHD in children with SP have been reported.
METHODS
To explore to what extent BHD is the cause of childhood pneumothorax, we studied a Danish BHD cohort consisting of 109 cases from 22 families. Clinical data was gathered by review of medical records. A systematic literature search concerning childhood and adolescence pneumothorax in BHD was performed and identified publications reviewed.
RESULTS
In our cohort, three of 109 BHD cases experienced childhood pneumothorax, corresponding to a prevalence of 3%. Reviewing the literature, data regarding more than 800 BHD cases were covered. Only seven previously published cases of childhood pneumothorax in BHD were identified.
CONCLUSION
Our findings suggest that BHD is likely the cause of a larger subset of childhood pneumothoraces than hitherto recognized. Awareness of BHD as a cause of childhood pneumothorax needs to be raised to provide patients and relatives with the possibility of specialized management of SP and regular renal cancer surveillance.
背景
Birt-Hogg-Dubé综合征（BHD）是一种常染色体显性遗传的癌症易感综合征，与成年人群自发性气胸（SP）和肾细胞癌风险增加相关。近期研究表明，BHD占成年人群所有SP的比例高达10%，且已有关于患有SP的儿童BHD的报道。
方法
为探究BHD在多大程度上是儿童气胸的病因，我们研究了一个丹麦BHD队列，该队列由来自22个家庭的109例病例组成。通过查阅病历收集临床数据。对有关BHD患儿及青少年气胸的文献进行了系统检索，并对已识别的出版物进行了综述。
结果
在我们的队列中，109例BHD病例中有3例经历过儿童气胸，患病率为3%。查阅文献发现，涵盖了800多例BHD病例的数据。仅识别出7例先前发表的BHD儿童气胸病例。
结论
我们的研究结果表明，BHD可能是儿童气胸的一个比迄今所认识到的更大的亚组的病因。需要提高对BHD作为儿童气胸病因的认识，以便为患者及其亲属提供对SP进行专门管理和定期进行肾癌监测的可能性。
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