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초록보기

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 chocardiographic 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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기사명 저자명 페이지 원문 목차
Tricuspid Regurgitation : Clinical Importance and Its Optimal Surgical Timing 김형관, 이승표, 김용진, 손대원 pp.1-9

The Comparison between the Echocardiographic Data to the Cardiac Catheterization Data on the Diagnosis, Treatment, and Follow-Up in Patients Diagnosed as Pulmonary Valve Stenosis 김도훈, 박수진, 정조원, 김남균, 최재영 pp.18-22

Differences of Aortic Stiffness and Aortic Intima-Media Thickness According to the Type of Initial Presentation in Patients with Ischemic Stroke 윤현주, 김계훈, 이상현, 임이랑, 이경진, 박근호, 심두선, 윤남식, 홍영준, 박형욱, 김주한, 안영근, 정명호, 조정관, 박종춘 pp.12-17

Ruptured Right Sinus of Valsalva Aneurysm to the Right Atrium Mimicking Acute Myocardial Infarction 이재훈, 유승기, 이지현, 박지영, 최재웅, 박만실, 임오경 pp.23-25

Fabry Cardiomyopathy 윤재용, 송준혁, 천상수, 조현준, 배명환, 이장훈, 양동헌, 박헌식, 조용근, 채성철 pp.26-29

Is Increased Aortic Stiffness Associated with Advanced Ischemic Stroke? 조은주 pp.10-11

A Case of Kommerell's Diverticulum Initially Detected by Transesophageal Echocardiography 이승준, 이승현, 김진호, 이한철, 이동준, 김정훈, 손정우, 손장원, 홍그루 pp.30-32

Transcatheter Treatment of Patent Foramen Ovale Combined with Abnormal Drainage of Left Superior Vena Cava to Left Upper Pulmonary Vein 김도훈, 박수진, 정조원, 김남균, 최재영 pp.33-36

Successful Embolectomy of a Migrated Thrombolytic Free-Floating Massive Thrombus Resulting in a Pulmonary Thromboembolism 유연표, 강기운 pp.37-39

Black Defects in Severe Spontaneous Echo Contrast Teach Us the Protective Aspect of Mitral Regurgitation Visually Atsushi Mizuno, Nobuhiro Takao, Koichiro Niwa pp.40-41

Bubbles in a Row : Finding of Pulmonary Arteriovenous Fistula on Transesophageal Echocardiography 박용현, 김정수, 김준, 김준홍, 전국진 pp.42-43

참고문헌 (19건) : 자료제공( 네이버학술정보 )

참고문헌 목록에 대한 테이블로 번호, 참고문헌, 국회도서관 소장유무로 구성되어 있습니다.
번호 참고문헌 국회도서관 소장유무
1 Desnick RJ, Ioannou YA, Eng CM. α-galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw- Hill;2001. p.3733-74. 미소장
2 Tanaka H, Adachi K, Yamashita Y, Toshima H, Koga Y. [Four cases of Fabry’s disease mimicking hypertrophic cardiomyopathy]. J Cardiol 1988;18:705-18. 미소장
3 Hypertrophic Cardiomyopathy 소장
4 Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease. 네이버 미소장
5 Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. 네이버 미소장
6 Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. 네이버 미소장
7 Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy 네이버 미소장
8 Prevalence of lysosomal storage disorders. 네이버 미소장
9 alpha-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease. 네이버 미소장
10 Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. 네이버 미소장
11 Tsakiris D, Simpson HK, Jones EH, Briggs JD, Elinder CG, Mendel S, Piccoli G, dos Santos JP, Tognoni G, Vanrenterghem Y, Valderrabano F. Report on management of renale failure in Europe, XXVI, 1995. Rare diseases in renal replacement therapy in the ERAEDTA Registry. Nephrol Dial Transplant 1996;11 Suppl 7:4-20. 미소장
12 Patients with Fabry disease on dialysis in the United States. 네이버 미소장
13 Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. 네이버 미소장
14 End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry 네이버 미소장
15 Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy 네이버 미소장
16 An atypical variant of Fabry's disease with manifestations confined to the myocardium. 네이버 미소장
17 Whybra C, Kampmann C, Willers I, Davies J, Winchester B, Kriegsmann J, Brühl K, Gal A, Bunge S, Beck M. Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes. J Inherit Metab Dis 2001;24:715-24. 미소장
18 Renoprotection by enzyme replacement therapy. 네이버 미소장
19 Short-Term Efficacy of Enzyme Replacement Therapy in Korean Patients with Fabry Disease 소장

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