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증례 : 내분비-대사 ; 제1형 신경섬유종증 가족에서 발견된 NF1 유전자 변이와 임상양상
정연정 ( Yeon Jeong Jeong ),서유림 ( Yoo Rim Seo ),최규은 ( Kyu Eun Choi ),한유민 ( Yu Min Han ),김은숙 ( Eun Sook Kim ),문성대 ( Sung Dae Moon ),한제호 ( Je Ho Han ) 대한내과학회 2016 대한내과학회지 Vol.90 No.5
With an incidence of 1 per 2,500-3,000 individuals, neurofibromatosis type 1 (NF1) is the most common autosomal dominant disorder in humans. NF1 is caused by germline mutations of the NF1 gene, but to date genotype-phenotype analyses have indicated no clear relationship between specific gene mutations and the clinical features of this disease, even among family members with the same mutation. The present study describes a case of two siblings with NF1 with the same genetic mutation but different clinical manifestations. The first patient was a female with iris Lisch nodules, an adrenal incidentaloma, Graves’ disease, and skin manifestations, while the second patient, the first patient’s younger brother, exhibited only skin neurofibromas and freckling. Further study is needed to reveal the molecular processes underlying gene expression and phenotypes. A better understanding of the genetics associated with NF1 will allow clinicians to detect complications earlier and provide better genetic counseling to NF1 families. (Korean J Med 2016;90:455-459)