한 가족에서 발생한 파브리병 환자 및 파브리병 보인자 9예

• 영문명: Fabry Disease in a Family: Four Patients and Five Carriers
• 발행기관: 대한안과학회
• 저자명: 이희경 김명준 최철영 차흥원,Hee Gyung Lee, M.D., Myoung Joon Kim, M.D., Chul Young Choi, M.D., Hungwon Tchah, M.D.
• 간행물 정보: 『대한안과학회지』Ophthalmological Society,volume47,number9, 1496~1501쪽, 전체 6쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2006.09.30

영문 초록

Purpose: The purpose of this study is to report the genetic diagnosis of nine cases of Fabry in one family, either as carriers or patients. Methods: We conducted analysis of the α-galactosidase A gene and ophthalmologic examination of family members of a patient diagnosed with Fabry disease. Results: Our patient, his brother, and two male cousins had Fabry disease; his mother, three aunts, and his female cousin were Fabry carriers. Genetic study revealed deletion mutation (1235-1236delCT) at the α-galactosidase A gene in all subjects. Ophthalmologic examination detected whirl-like corneal opacity in all subjects, which is a typical characteristic of Fabry disease.

키워드

α-galactosidase A gene, Corneal opacity, Fabry disease