Oliveira Rui Caetano, Tavares Edgar, Sousa Vítor, Figueiredo Arnaldo
Department of Pathology, Hospitais da Universidade de Coimbra, Coimbra, Portugal.
Coimbra's Medical College, Coimbra's Hospital and Universitary Center, Coimbra, Portugal.
BMJ Case Rep. 2017 Oct 23;2017:bcr-2017-221022. doi: 10.1136/bcr-2017-221022.
Birt-Hogg-Dubé (BHD) is a rare syndrome of inherited renal cell carcinomas, characterised by cutaneous lesions and pulmonary cysts and pneumothorax in a vast majority of the patients. Awareness of this syndrome is important in order to refer patients for genetic counselling and personalised follow-up as soon as possible. We describe a case of a 30-year-old female referred to our institution due to incidental discovery of solid bilateral renal masses. Renal biopsies were consistent with chromophobe tumour, and bilateral nephrectomy was performed. Gross examination revealed deformed kidneys with 28 brown and solid lesions, size variable between 0.1 and 6 cm, histologically corresponding to renal cell carcinomas, chromophobe type. Genetic test was required that showed a c.573delGAinsT frameshift mutation in heterozigosity at the folliculin gene, consistent with BHD diagnosis.
Birt-Hogg-Dubé（BHD）综合征是一种罕见的遗传性肾细胞癌综合征，其特征是绝大多数患者出现皮肤病变、肺囊肿和气胸。认识到这种综合征对于尽早为患者提供遗传咨询和个性化随访非常重要。我们描述了一例30岁女性，因偶然发现双侧实性肾肿块而转诊至我院。肾活检结果与嫌色细胞瘤一致，遂行双侧肾切除术。大体检查显示肾脏变形，有28个褐色实性病变，大小在0.1至6厘米之间，组织学上符合肾细胞癌，嫌色细胞型。基因检测显示卵泡抑素基因存在杂合性c.573delGAinsT移码突变，符合BHD诊断。
