CAJ | 학술논문

目的探讨多发性内分泌腺瘤病2A型患者双侧肾上腺嗜铬细胞瘤切除术后,再次行甲状腺髓样癌手术的围手术期处理.方法 7例多发性内分泌腺瘤病2A型患者来自3个家系,术前通过化验和影像学检查诊断为甲状腺髓样癌合并肾上腺嗜铬细胞瘤,既往均有甲状腺髓样癌和对侧肾上腺嗜铬细胞瘤手术史.所有患者均接受RET基因外显子直接测序.患者先接受腹腔镜下肾上腺嗜铬细胞瘤切除术,术后经糖皮质激素替代治疗,继而行甲状腺全切加颈淋巴结清扫术.结果 3个家系中一个家系是RET基因C634Y/D707E联合突变;另外两个家系分别是C634Y和C634R位点突变.患者因双侧肾上腺嗜铬细胞瘤均曾行手术治疗,术后合并肾上腺功能不全.经围手术期应用糖皮质激素和严密监测,患者均顺利度过甲状腺全切加颈淋巴结清扫术围手术期,未发生肾上腺危象及相关并发症.结论本研究中多发性内分泌腺瘤病2A型患者具有RET基因突变,其中D707E为一个新发现的突变位点.肾上腺功能不全患者手术可能诱发肾上腺危象,危及生命.正确的围手术期监测和处理可避免相关并发症.
목적 탐토다발성내분비선류병2A형환자쌍측신상선기락세포류절제술후,재차행갑상선수양암수술적위수술기처리.방법 7례다발성내분비선류병2A형환자래자3개가계,술전통과화험화영상학검사진단위갑상선수양암합병신상선기락세포류,기왕균유갑상선수양암화대측신상선기락세포류수술사.소유환자균접수RET기인외현자직접측서.환자선접수복강경하신상선기락세포류절제술,술후경당피질격소체대치료,계이행갑상선전절가경림파결청소술.결과 3개가계중일개가계시RET기인C634Y/D707E연합돌변;령외량개가계분별시C634Y화C634R위점돌변.환자인쌍측신상선기락세포류균증행수술치료,술후합병신상선공능불전.경위수술기응용당피질격소화엄밀감측,환자균순리도과갑상선전절가경림파결청소술위수술기,미발생신상선위상급상관병발증.결론 본연구중다발성내분비선류병2A형환자구유RET기인돌변,기중D707E위일개신발현적돌변위점.신상선공능불전환자수술가능유발신상선위상,위급생명.정학적위수술기감측화처리가피면상관병발증.
Objective To evaluate perioperative management of MEN 2A patients with medullary thyroid carcinoma after bilateral pheochromocytomas removal.Methods Seven cases of MEN 2A from three families were diagnosed as medullary thyroid carcinoma and adrenal pheochromocytoma by biochemical tests and imaging examinations.All had histories of operations due to medullary thyroid carcinoma and contralateral adrenal pheochromocytoma.Direct sequencing of entire exons was performed in all patients.Firstly they underwent laparoscopic surgery for pheochromocytoma, then after stetoids replacement they underwent total thyroidectomy and bilateral cervical lymph nodes dissection.Results One family had the combined C634Y/D707E mutations of RET mutation.The other two families had C634Y mutation and C634R mutation separately.All patients had histories of adrenal insufficiency because of bilateral laparoscopic adrenal pheochromocytomas removal.They suffered from medullary thyroid carcinoma at the same time and needed to do total thyroidectomy and bilateral cervical lymph node dissection.Under perioperative steroids treatment and closely monitoring, they successfully went through the surgery.No adrenal crisis or related complications happened.Conclusions MEN 2A patients in this study had RET mutations and D707E mutation is a newly discovered mutation.Patients of adrenal insufficiency face the risk of adrenal crisis after a major operation.Correct perioperative monitoring and management can avoid complications.