Johannesma P C, van Moorselaar R J A, Horenblas S, van der Kolk L E, Thunnissen E, van Waesberghe J H T M, Menko F H, Postmus P E
Department of Pulmonary Diseases, VU University Medical Center, P.O. Box 7057, 1007 MB Amsterdam, The Netherlands.
Department of Urology, VU University Medical Center, Amsterdam, The Netherlands.
Case Rep Med. 2014;2014:618675. doi: 10.1155/2014/618675. Epub 2014 Mar 20.
Birt-Hogg-Dubé (BHD) syndrome is a cancer disorder caused by a pathogenic FLCN mutation characterized by fibrofolliculomas, lung cysts, pneumothorax, benign renal cyst, and renal cell carcinoma (RCC). In this case we describe a patient with bilateral renal tumour and a positive familial history for pneumothorax and renal cancer. Based on this clinical presentation, the patient was suspected for BHD syndrome, which was confirmed after molecular testing. We discuss the importance of recognizing this autosomal dominant cancer disorder when a patient is presented at the urologist with a positive family history of chromophobe renal cell cancer or a positive familial history for renal cell cancer and pneumothorax.
Birt-Hogg-Dubé（BHD）综合征是一种由致病性卵泡抑素（FLCN）突变引起的癌症疾病，其特征为纤维毛囊瘤、肺囊肿、气胸、良性肾囊肿和肾细胞癌（RCC）。在本病例中，我们描述了一名患有双侧肾肿瘤且有气胸和肾癌家族史阳性的患者。基于此临床表现，该患者被怀疑患有BHD综合征，分子检测后得以确诊。当患者因嫌色肾细胞癌家族史阳性或肾细胞癌和气胸家族史阳性而就诊于泌尿外科医生时，我们讨论了识别这种常染色体显性癌症疾病的重要性。
