【摘要】 目的对1例以双侧肾上腺嗜铬细胞瘤（PHEO）反复发作为主要表现的多发性内分泌腺瘤病2A型（MEN2A）病人的诊治方法进行探讨,并分析病人RET基因的突变情况。方法对我院收治的1例MEN2A病人的临床资料进行分析,同时检测先证者及其家系成员的RET基因突变点,结合文献病例对该病人的诊治方法及预后情况进行复习。结果先证者RET基因中检测出c.1900T>C（p.Cys634Arg）错义突变,该突变导致RET基因编码蛋白第634位氨基酸由半胱氨酸突变为精氨酸,病人为杂合子Het,确诊为MEN2A。对该患者行双侧甲状腺切除及双侧肾上腺部分切除,术后行¹³¹I-MIBG治疗,并定期随访,现一般情况可。结论 MEN2A的诊断主要依靠RET基因检测,手术是目前治疗该病的最佳方法,对于RET基因突变表型正常的人群,早期干预性手术是目前国际上提倡的方法。当MEN2A病人PHEO多次复发时,术后行¹³¹I-MIBG治疗可取得较好的结果。更多还原

【Abstract】 Objective To investigate the diagnosis and treatment of a patient with multiple endocrine adenomatosis type2A（MEN2A）with recurrent bilateral adrenal pheochromocytoma（Pheo）as the main manifestation and the mutation of the RET gene in this patient. Methods The clinical data of a patient with MEN2 Awho was admitted to our hospital were analyzed,and the RET mutation points of the proband and its family members were detected.The diagnosis and treatment methods and the prognosis of this patient were analyzed and a literature review was performed. Results A missense mutation,c.1900 T>C（p.Cys634Arg）,was detected in the RET gene of the proband.This mutation caused the mutation of the 634 th amino acid of the RET coding protein from cysteine to arginine,and the patient had heterozygous Het.Therefore,the patient was diagnosed with MEN2A.The patient underwent bilateral thyroidectomy and partial resection of both adrenal glands,followed by ¹³¹I-MIBG treatment.The patient was followed up regularly and now had fair general conditions. Conclusion The diagnosis of MEN2A mainly relies on RET gene detection,and surgery is the best method for the treatment of this disease at present.For people with normal RET mutation phenotype,early interventional surgery is currently recommended in the world.Postoperative ¹³¹I-MIBG therapy may yield good results in MEN2A patients with recurrent Pheo.更多还原