Fabry Cardiomyopathy
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초록
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.
Abstract
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.
참고문헌 (19)
- Desnick RJ, "α-galactosidase A deficiency: Fabry disease, In Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease", pp.3733~3774 (2001), McGraw- Hill
- Tanaka H, "Four cases of Fabry’s disease mimicking hypertrophic cardiomyopathy", J Cardiol, 18, pp.705~718 (1988)
- 정진원, "비후성 심근증", Korean Circulation Journal, 32(1), pp.7~14 (2002), 대한심장학회
- Eng CM, "International Collaborative Fabry Disease Study Group. Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry’s disease", N Engl J Med, 345, pp.9~16 (2001)
- Weidemann F, "Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study", Circulation, 108, pp.1299~1301 (2003)
- Mehta A, "Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey", Eur J Clin Invest, 34, pp.236~242 (2004)
- Desnick RJ, "Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy", Ann Intern Med, 138, pp.338~346 (2003)
- Meikle PJ, "Prevalence of lysosomal storage disorders", JAMA, 281, pp.249~254 (1999)
- Linthorst GE, "alpha-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease", Nephrol Dial Transplant, 18, pp.1581~1584 (2003)
- Kotanko P, "Results of a nationwide screening for Anderson-Fabry disease among dialysis patients", J Am Soc Nephrol, 15, pp.1323~1329 (2004)
- Tsakiris D, "qReport on management of renale failure in Europe, XXVI, 1995. Rare diseases in renal replacement therapy in the ERAEDTA Registry", Nephrol Dial Transplant, 11(Suppl 7), pp.4~20 (1995)
- Thadhani R, "Patients with Fabry disease on dialysis in the United States", Kidney Int, 61, pp.249~255 (2002)
- Nakao S, "Fabry disease: detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype", Kidney Int, 64, pp.801~807 (2003)
- Ortiz A, "End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry", Nephrol Dial Transplant, 25, pp.769~775 (2010)
- Schiffmann R, "Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy", Nephrol Dial Transplant, 24, pp.2102~2111 (2009)
- von Scheidt W, "An atypical variant of Fabry’s disease with manifestations confined to the myocardium", N Engl J Med, 324, pp.395~399 (1991)
- Whybra C, "Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes", J Inherit Metab Dis, 24, pp.715~724 (2001)
- Brenner BM, "Renoprotection by enzyme replacement therapy", Curr Opin Nephrol Hypertens, 13, pp.231~241 (2004)
- Jin Ho Choi, "Short-Term Efficacy of Enzyme Replacement Therapy in Korean Patients with Fabry Disease", Journal of Korean Medical Science, 23(2), pp.243~250 (2008), 대한의학회