한국인에서 다발성 내분비선종 증후군의 초기 증상 및 임상 양상

• 영문명: Early Symptoms and Clinical Manifestations in Korean Patients with Multiple Endocrine Neoplasia
• 발행기관: 대한내분비외과학회
• 저자명: 김기호 구민영 허성모 이세경 최준호 이정언 김지수 정재훈¹ 남석진 양정현 김정한 Ki-Ho Kim M.D. Min-Young Koo M.D. Sung-Mo Hur M.D. Se-Kyung Lee M.D. Jun-Ho Choe M.D. Jeong Eon Lee M.D. Jee Soo Kim M.D. Jae-Hoon Chung M.D.¹ Seok Jin Nam M.D. Jung-Hyun Yang M.D. and Jung-Han Kim M.D.
• 간행물 정보: 『The Koreran journal of Endocrine Surgery』10권4호, 266~275쪽, 전체 10쪽
• 주제분류: 의약학 > 일반외과학
• 파일형태: PDF
• 발행일자: 2010.12.30

영문 초록

Purpose: Multiple endocrine neoplasia (MEN) syndrome is an inherited, autosomal dominant disease that presents as a combination of several endocrine tumors. Early diagnosis of this syndrome is difficult, because of the nonspecific symptoms and signs. This study analyzed early manifestations and clinical characteristics in patients with MEN syndrome. Methods: Medical records were retrospectively reviewed and telephone interviews were conducted with 35 patients diagnosed as MEN syndrome at Samsung Medical Center from December 1994 to December 2009. Results: The 35 patients had been diagnosed as MEN1 (n=14), MEN2A (n=19) and MEN2B (n=2). The early manifestations of the 14 MEN1 patients were related with hyperparathyroidism (n=5), pituitary tumor (n=3), and pancreatic endocrine tumor (n=2). There were tumors of the parathyroid gland in all 14 patients, anterior pituitary in eight patients, and pancreatic islet cells in seven patients. Four cases were incidentally detected during the screening examination. Six cases harbored a MEN1 gene mutation. The twenty-one patients diagnosed with MEN2 comprised medullary thyroid cancer (n=20), adrenal pheochromocytoma (n=15), and hyperparathyroidism (n=4). The MTC-related symptoms in the 21 MEN2 patients included neck mass or discomfort in 12 patients and pheochromocytoma-related symptoms in seven patients. Two cases were detected through familial genetic screening test. The RET gene mutationwas detected in 19 cases. Conclusion: Early manifestations of MEN syndrome were very different between the types of MEN and the types of its presenting tumor. The early diagnosis and proper management of MEN requires awareness of the clinical characteristics of each expressed tumor and is influenced by genetic screening methods. (Korean J Endocrine Surg 2010; 10:266-275)

키워드

다발성 내분비선종 증후군, 초기 증상, 임상 양상, 조기 진단,Multiple endocrine neoplasia (MEN), Early symptom, Clinical manifestation, Early diagnosis