MEN1 유전자 돌연변이가 증명된 가족성 제1형 다발성 내분비 선종 가족 1예 = A Case of Familial Multiple Endocrine Neoplasia Type 1 with MEN1 Gene Mutation

국문 초록 (Abstract)

성격 및 행동 변화 그리고 반복적 의식소실을 주소로 내원한 26세의 여자 환자에서 인슐린종과 부갑상선기능항진증을 진단하고 췌장 원위부 절제술 및 부갑상선 부분절제술 시행하였으며, 가족력에서 동생이 인슐린종으로 두 차례 수술 받은 병력이 있어 직계가족에 대해 가족성 제1형 다발성 내분비 선종에 대한 선별검사 및 MEN1 유전자 검사 시행하였고 유전자 돌연변이(738del4 → 새로운 명명법: 628del4)를 증명하였다. 제1형 다발성 내분비 선종으로 진단받은 환자의 가족에서 유전자 검사를 통해 MEN1 유전자 돌연변이 여부를 아는 것은 선별검사 진행과 종양의 조기발견을 위해 중요하다고 할 수 있겠다.

다국어 초록 (Multilingual Abstract)

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the combined occurrence of parathyroid, pancreatic islet and pituitary gland tumors. It is caused by mutation of the MEN1, a tumor suppressor gene, with more than 400 different MEN1 mutations having been described. Herein is reported the case of a 26-year-old woman who had complained of personality and behavior changes, coupled with repetitive loss of consciousness. Her random plasma glucose and insulin were 68 mg/dL and 67.3 μIU/mL, respectively. Two pancreatic masses were noted on abdominal computed tomography, with hypercalcemia noted from a routine chemistry test. Her diagnosis was that of MEN1; therefore, her first-degree relatives were also screened. DNA analysis was also performed, from which a MEN1 gene mutation (738del4 → new nomenclature: 628del4) was detected. Knowledge of the MEN1 mutation status could provide early recognition of a tumor. (J Kor Endocrinol Soc 22:68~73, 2007)

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