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
- 2013.1
- 수록면
- 26 - 29 (4page)
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초록· 키워드
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Fabry disease is a progressive X-linked disorder of glycosphingolipid metabolism caused by a deficiency of the α-galactosidase lysosomal enzyme. The partial or complete deficiency of the lysosomal enzyme leads to an accumulation of neutral glycosphingolipids in the vascular endothelium and visceral tissues throughout the body. In the heart, glycosphingolipids deposition causes progressive left ventricular hypertrophy (LVH). We report a case of Fabry disease which was suspected based upon two-dimensional echocardiographic finding of LVH. A 44-year-old man was admitted to evaluation of aggravated exertional dyspnea of two weeks duration. He had been diagnosed with end-stage renal disease of unknown etiology at age 41 followed by renal transplantation that year. He had been treated with oral immunosuppressive agents. On hospital day two, transthoracic echocardiography revealed concentric LVH. Left ventricular systolic function was preserved but diastolic dysfunction was present. Fabry disease was confirmed by demonstration of a low plasma α-galactosidase A (α-Gal A) activity. Analysis of genomic DNA showed α-Gal A gene mutation. The patient was diagnosed with Fabry disease.
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참고문헌 (19)
참고문헌 신청
Brenner BM / 2004 / Renoprotection by enzyme replacement therapy / Curr Opin Nephrol Hypertens 13 : 231 ~ 241
Desnick RJ / 2001 / α-galactosidase A deficiency: Fabry disease, In Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease / McGraw- Hi
Desnick RJ / 2003 / Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy / Ann Intern M
Eng CM / 2001 / International Collaborative Fabry Disease Study Group. Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry’s disease
Jin Ho Choi / 2008 / Short-Term Efficacy of Enzyme Replacement Therapy in Korean Patients with Fabry Disease / Journal of Korean Medical Science 23 (2) : 243 ~ 250
Desnick RJ / 2001 / α-galactosidase A deficiency: Fabry disease, In Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease / McGraw- Hi
Desnick RJ / 2003 / Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy / Ann Intern M
Eng CM / 2001 / International Collaborative Fabry Disease Study Group. Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry’s disease
Jin Ho Choi / 2008 / Short-Term Efficacy of Enzyme Replacement Therapy in Korean Patients with Fabry Disease / Journal of Korean Medical Science 23 (2) : 243 ~ 250
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