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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2015.1
- 수록면
- 99 - 102 (4page)
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Multiple endocrine neoplasia type 1 is an autosomal dominant disease caused by the MEN1germline mutation. A 25-year-old male was admitted for loss of consciousness. Initial laboratory data showed hypoglycemia and hypercalcemia. The image study showed two insulinoma in the pancreas head and body. MIBI scan was positive in the left lower parathyroid gland. After diagnosis of insulinoma and hyperparathyroidism, MEN1 was suspected, but there was no family history of endocrine disease. Enucleation of the insulinoma in the pancreatic head and body was performed. After the operation, the blood sugar level was normalized and no hypoglycemic symptoms were observed. Testing of germline mutations of the MEN1 gene was performed by direct DNA sequence analysis after obtaining informed consent. In the genetic study, a frameshift mutation was found in exon 2 which deleted 16 nucleic acids (c.326_341del16) and resulted in a truncation at codon 113. This mutation was not reported previously. We found a novel and de novo mutation of the MEN1 gene. Genetic study is necessary in case of young-age, multiple endocrine tumors.
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참고문헌 (7)
참고문헌 신청
Bergman L / 2000 / Identification of MEN1 gene mutations in families with MEN 1 and related disorders / Br J Cancer 83 : 1009 ~ 1014
Bilezikian JP / 2009 / Guidelines for the management of asymptomatic primary hyperparathyroidism: summary statement from the third international workshop / J Clin Endocrinol
Cohen MS / 1997 / Prospective study of provocative angiograms to localize functional islet cell tumors of the pancreas / Surgery 122 : 1091 ~ 1100
Doherty GM / 1991 / Results of a prospective strategy to diagnose, localize, and resect insulinomas / Surgery 110 : 989 ~ 997
Lemos MC / 2008 / Multiple endocrine neoplasia type 1(MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene / Hum Mutat 29 : 22
Bilezikian JP / 2009 / Guidelines for the management of asymptomatic primary hyperparathyroidism: summary statement from the third international workshop / J Clin Endocrinol
Cohen MS / 1997 / Prospective study of provocative angiograms to localize functional islet cell tumors of the pancreas / Surgery 122 : 1091 ~ 1100
Doherty GM / 1991 / Results of a prospective strategy to diagnose, localize, and resect insulinomas / Surgery 110 : 989 ~ 997
Lemos MC / 2008 / Multiple endocrine neoplasia type 1(MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene / Hum Mutat 29 : 22
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