CAJ | 학술논문

多发性内分泌腺瘤病（MEN）1型是一种常染色体显性遗传的内分泌肿瘤综合征，是由 MEN1抑癌基因的失活突变引起的，主要临床表现有甲状旁腺功能亢进、胰腺内分泌肿瘤、垂体腺瘤等。其诊断主要依靠临床资料及综合检查结果。近年来基因检测技术不断发展，基因诊断在提高MEN1型的诊断率中发挥了重要作用，然而 MEN1型患者的临床症状及病情轻重各有其自身特点，基因诊断在临床工作中的应用仍存在争议。该文总结1例以皮质醇增多症（库欣综合征）起病，经基因检测发现 MEN1基因第10外显子存在新的杂合突变的 MEN1型患者的临床资料、治疗及随访情况，并复习了相关文献。综合分析临床资料及各项检查结果、合理运用基因检测、个体化治疗方案及有效的随访对改善患者预后和生活质量有重要临床意义。
다발성내분비선류병（MEN）1형시일충상염색체현성유전적내분비종류종합정，시유 MEN1억암기인적실활돌변인기적，주요림상표현유갑상방선공능항진、이선내분비종류、수체선류등。기진단주요의고림상자료급종합검사결과。근년래기인검측기술불단발전，기인진단재제고MEN1형적진단솔중발휘료중요작용，연이 MEN1형환자적림상증상급병정경중각유기자신특점，기인진단재림상공작중적응용잉존재쟁의。해문총결1례이피질순증다증（고흔종합정）기병，경기인검측발현 MEN1기인제10외현자존재신적잡합돌변적 MEN1형환자적림상자료、치료급수방정황，병복습료상관문헌。종합분석림상자료급각항검사결과、합리운용기인검측、개체화치료방안급유효적수방대개선환자예후화생활질량유중요림상의의。
Multiple endocrine neoplasia type 1 (MEN1)is an autosomal dominant endocrine tumor syndrome caused by the inactivation and mutation of tumor suppressor gene MEN1.MEN1 encompasses clinical characteristics featuring hyperparathyroidism,pancreatic neuroendocrine tumors and pituitary adenomas,etc.The diagnosis of MEN1 mainly relies on clinical data and comprehensive examination outcomes.Along with re-cent development of gene detection technique,genetic diagnosis plays a pivotal role in enhancing the diagnosis rate of MEN1.However,MEN1 patients have diverse clinical manifestations and severity of diseases,applica-tion of gene detection technique in clinical practice remains controversial.Herein,we reported the clinical da-ta,treatment and prognosis of one case of MEN1.The patient first presented with hypercortisolism (Cushing's syndrome)as onset symptom.Gene detection identified a novel heterozygote G to A transition in exon 10.We also conducted relevant literature review.Comprehensive analysis of clinical data and examination outcomes, proper application of gene detection,individualized therapy and effective follow-up are of clinical significance to improve MEN1 patients’prognosis and quality of life.