지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2016.12
- 수록면
- 324 - 328 (5page)
이용수
초록· 키워드
오류제보하기
A 71-year-old female who was diagnosed with nonobstructive hypertrophic cardiomyopathy since 1999 presented with dyspneaand severe edema on both legs. For the management of her symptom, cardiac surgery including tricuspid annuloplasty, Maze operationand right atrial reduction plasty was performed. During follow-up after cardiac surgery, a plasma α-galactosidase activitywas checked for the screening of Fabry disease and the result was around lower normal limit. DNA analysis was implemented forconfirmation and it revealed a heterozygote α-galactosidase mutation at exon 6 [c.901C>T (p.Arg301Ter)]. This case suggeststhat Fabry disease might be easily undetected, and clinical suspicion is critical.
목차
등록된 정보가 없습니다.
참고문헌 (15)
참고문헌 신청
Schiffmann R / 2001 / Enzyme replacement therapy in Fabry disease : a randomized controlled trial / JAMA 285:2743~2749
Nakao S / 1995 / An atypical variant of Fabry’s disease in men with left ventricular hypertrophy / N Engl J Med 333:288~293
Chimenti C / 2004 / Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy / Circulation 110:1047~1053
Kampmann C / 2002 / Cardiac manifestations of Anderson-Fabry disease in heterozygous females / J Am Coll Cardiol 40:1668~1674
Desnick RJ / 2004 / Fabry disease in childhood / J Pediatr 144(5 Suppl):S20~S26
Nakao S / 1995 / An atypical variant of Fabry’s disease in men with left ventricular hypertrophy / N Engl J Med 333:288~293
Chimenti C / 2004 / Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy / Circulation 110:1047~1053
Kampmann C / 2002 / Cardiac manifestations of Anderson-Fabry disease in heterozygous females / J Am Coll Cardiol 40:1668~1674
Desnick RJ / 2004 / Fabry disease in childhood / J Pediatr 144(5 Suppl):S20~S26
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