家族性高胆固醇血症并双侧颞骨黄色瘤的病例分析及其基因检测  

Genetic and clinical analysis of a patient of bilateral temporal bone xanthoma with familial hypercholesterolemia

作　　者：张芳君 韩宇[2] 高伟[2] 梁鹏飞[2] 王淑娟[2] 陈阳[2] 

机构地区：[1]陕西省第四人民医院耳鼻咽喉科,陕西西安710043 [2]第四军医大学西京医院耳鼻咽喉头颈外科,陕西西安710032

出　　处：《中国耳鼻咽喉颅底外科杂志》2015年第3期184-186,190,共4页Chinese Journal of Otorhinolaryngology-skull Base Surgery

基　　金：国家自然科学基金(81371099)

摘　　要：目的分析高胆固醇血症并双侧颞骨黄色瘤患者及其家属的低密度脂蛋白受体(low density lipoprtein receptor,LDLR)基因突变。方法 1例临床罕见的高胆固醇血症并双侧颞骨黄色瘤患者,接受手术治疗同时采用PCR扩增结合核苷酸序列对其全家进行LDLR基因突变检测。结果患者分2次接受左右两侧颞骨次全切除术。基因测序发现患者及其胞弟LDLR基因存在复合杂合突变c.400T>C(p.Cys134Arg)和c.1246C>T(p.Arg416Trp),其母为c.400T>C杂合突变,其父为c.1246C>T杂合突变。结论该例双侧颞骨黄色瘤患者的致病原因为复合杂合型家族性高胆固醇血症,对有症状的占位性病变可以选择手术治疗。Objective To study low density lipoprotein receptor LDLR gene mutation in a patient suffering from bilateral temporal bone xanthoma with famihal hypercholestero].emia. Methods A rare case of bilateral temporal bone xanthoma associated with hypercholesterolemia was reported. In this patient, osteolytic destruction occurred in mastoid air cells, auditory ossicles and bony labyrinth. The patient received surgical treatment. LDLR gene mutation of the patient and her family members was detected. Results The patient undergone twice subtotal temporal bone resection for the bilateral lesions. Gene sequencing showed two missense mutations of LDLR gene in the patient and her brother, including c. 400T 〉 C （p. Cys134Arg） and c. 1246C 〉 T （p. Arg416Trp）. c. 400T 〉 C and c. 1246C 〉 T mutations occurred in her mother and father respectively. Conclusion Pathogenesis of this bilateral temporal bone xanthoma is compound heterozygote familial hypercholesterolemia. Surgery is of choice for symptomatic space-occupying lesions.

关 键 词：颞骨 黄色瘤 低密度脂蛋白受体 基因突变 

分 类 号：Q987[生物学—遗传学] R764.92[生物学—人类学]