한국인에서 다발성 내분비선종 증후군의 초기 증상 및 임상 양상

김정한; 김기호; 구민영; 허성모; 이세경; 최준호; 이정언; 김지수; 정재훈; 남석진; 양정현

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자료유형: 학술저널

저자정보: 김정한 김기호 구민영 허성모 이세경 최준호 이정언 김지수 정재훈 남석진 양정현

저널정보: 대한갑상선-내분비외과학회 The Journal of Endocrine Surgery The Journal of Endocrine Surgery 제10권 제4호

발행연도: 2010.1

수록면: 266 - 275 (10page)

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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)

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

참고문헌 (26)

참고문헌 신청

Agarwal SK / 2004 / Molecular pathology of the MEN1 gene / Ann N Y Acad Sci 1014 : 189 ~ 198

Brandi ML / 2001 / Guidelines for diagnosis and therapy of MEN type 1 and type 2 / J Clin Endocrinol Metab 86 : 5658 ~ 5671

Carling T / 2005 / Parathyroid surgery in familial hyperparathyroid disorders / J Intern Med 257 : 27 ~ 37

Doherty GM / 2005 / Multiple endocrine neoplasia type 1 / J Surg Oncol 89 : 143 ~ 150

Eller-Vainicher C / 2009 / Sporadic and MEN1-related primary hyperparathyroidism: differences in clinical expression and severity / J Bone Miner Res 24 : 1404 ~ 1410

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