Birt-Hogg-Dubé综合征合并肾嗜酸/嫌色细胞混合性肿瘤一例

A Case of Birt-Hogg-Dubé Syndrome with Renal Hybrid Oncocytic/Chromophobe Tumors

Birt-Hogg-Dubé(BHD)综合征是临床罕见的常染色体显性遗传病,卵泡素基因突变是本病致病原因,常见受累器官包括肺、肾、皮肤等。国内BHD综合征仅有数个家系报道,肺囊肿和气胸为此病常见临床表现,而皮肤损害和肾脏肿瘤则比较少见。本文报道一例BHD综合征合并肾嗜酸/嫌色细胞混合性肿瘤病例,分析其临床特征、实验室检查结果、家系情况、诊治经过,并复习相关文献,提示临床应重视BHD综合征的诊断,对合并肾肿瘤患者,早期发现以及保留肾单位的肾肿瘤切除为处理原则。

Birt-Hogg-Dubé( BHD) syndrome is a rare autosomal dominant genetic disease that results from the mutation of folliculin gene and commonly affects lungs,kidneys,and skin. In China,only a few families affected by this syndrome were reported. Pulmonary cysts and pneumothorax are common clinical manifestations of this disease,while skin lesions and kidney tumors are relatively rare. Here we reported a case of BHD syndrome with renal hybrid oncocytic/chromophobe tumors,analyzed its clinical features,laboratory examinations,family history,diagnostic methods,and treatment,and reviewed the relevant literature. Clinical attention should be paid to the diagnosis of BHD syndrome. The treatment principle for patients with renal tumors is early detection and to carry out nephron sparing surgery.