VHL 유전자 변이(R167W)에 의해 쌍둥이 형제에서 발현된？von Hippel-Lindau 병 1예 (A Case Report of von Hippel-Lindau Disease Manifested？n a Monozygous Twin)

서지정보

· 발행기관 : 대한내분비학회
· 수록지 정보 : Endocrinology and Metabolism / 20권 / 4호 / 394 ~ 400페이지
· 저자명 : 김진우, 최상조, 김연경, 안상미, 송경은, 정선혜, 김대중, 정윤석, 이관우, 김일진, 강효정, 박재갑

초록

von Hippel-Lindau(VHL)병은 다발성장기에 과혈관종을 일으키는 상 염색체 우성 질환으로 망막 및 중추신경계에 혈관종, 신세포암, 갈색세포종과 각 장기에 낭종을 일으킬 수 있다. 최근 VHL병에 대한 유전자변이 검사가 도입되어 가족의 선별검사가 가능해졌다.

영어초록

Von Hippel-Lindau (VHL) disease is an autosomal dominant disease, which forms hypervascular tumors in multiple organs, such as hemangioblastomas in the retina and central nervous system, renal cell carcinomas, pheochromocytomas and cysts in various organs. Recent advances in gene testing have made it possible to screen family members for VHL disease. We experienced a 28 year-old male, who was diagnosed with bilateral pheochromocytomas through a family screening test when his elder monozygous twin brother was diagnosed with a pheochromocytoma. He received no treatment until December, 2004, when he visited the Emergency room due to a headache. A hemangioma of the cerebellum was seen in the brain MR study, leading to the diagnosis of type 2A VHL disease. An abdominal CT scan revealed no lesions of the pancreas or kidney. There was no evidence of a hemangioma in the retinal scan. The subsequent gene testing showed a germline mutation in exon 3 codon 167 of the VHL gene. The mother of the patient was revealed to have the same mutation of the VHL gene, but the elder brother of the patient did not

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