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￭ S-535 ￭
The prevalence and clinical features of fabry disease in hemodialysis patients
1단국대학교의과대학 내과학교실, 2단국대학교 의과대학 내과학교실 신장내과
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이인국
1, 이은경
2, 조종태
2, 윤성철
2, 김소미
2Introduction: Fabry disease (FD) is an X-linked disorder resulting from a deficiency in α-galactosidase A (α-Gal) activity. This enzyme deficiency causes the systemic lysosomal accumulation of globotriaosylceramide, in the vascular endothelium and other tissues such as kidney, heart etc. Although the high prevalence of fabry disease is expected in island due to genetic disorder, there was little information. In this study, we try to investigate the prevalence of fabry disease in hemodialysis(HD) patients in Jeju island of Republic of Korea. Methods: A total of 653 HD patients from 9 artificaial kidney centers was enrolled in this study. The screening was performed by a method of measuring plasma and/or leukocytes lysosomal α-galactosidase A protein level and α-galactosidase A activity. If positive, genetic analysis was carried out upon patient’s agreement. Results: A total of 663 hemodial- ysis patients enrolled in the study. The mean age of patients was 57 year old, and male was 64%. Among them, the 39 patients(5 %) showed a low α -galactosidase A activity with＜0.45 nmol/min/mg protein. The gene analysis was performed In all patient with positive results. In genetic analysis, the definite GLA mutation was not found. But E66Q mutation of GLA, which is debating functional variant or fabry disease, was found in 3 female patients. Although the presumptive clinical cause of renal failure of them was diabetes mellitus in 1, unknown etiology in 2. The kidney biopsy was not performed. Conclusion: Although the prevalence of fabry disease was 0 %, the E66Q mutation showed 0.04 % in hemodialysis patients of Jeju island.
More accurate diagnostic tool for fabry disease and follow- up of prognosis of patient with E66Q mutation were needed.
￭ S-536 ￭
유지 혈액투석 환자에서 고유량 동정맥루의 빈도와 연관된 요소
가톨릭대학교 의과대학 성빈센트병원 신장내과
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정은하, 이윤희, 박훈석, 김형욱, 진동찬
Background: Arteriovenous fistula (AVF) is most common vascular access in hemodialysis patients and the care of arteriovenous fistula is one of ma- jor work for hemodialysis physician. High AVF flow causes changes in cardiovascular hemodynamics, including the systemic and pulmonary circu- lations, and high cardiac output failure are reported if the fistula blood flow exceeds 2.0 L/min. We evaluate the prevalence of high arteriovenous fistula blood flow and identify factors which are associated with the high arteriovenous fistula access flow in the maintenance hemodialysis patients in a single hemodialysis center. Methods: Total 152 hemodialysis patients under the maintenance hemodialysis program in the Catholic university St. Vincent’s hospital were enrolled this study. The patients’ vascular access flow (Qa) was measured by means of the ultrasound dilution method (Transonic Hemodialysis Monitor HD3) and the associated clinical data were analyzed. Results: The overall mean of Qa was 1,387±703ml/min and 15% (23 pa- tients) of enrolled patients has high Qa which was above 2,000ml/min. The mean Qa of the forearm AVFs was 1,287ml/min (112 patients), whereas that of the upper arm AVFs (40 patients) was 1,665ml/min, the difference was statically significant (p＜0.001). Similarly, male and non-diabetic group were significant higher Qa. High levels of Qa tended to be young age and to have longer AVF duration. Dry weight and ultrafiltration, cardiothoracic ratio and cardiac ejection fraction were not significantly different between high access flow group and the normal access flow group. By correlation analysis the high levels of Qa was significantly associated with young age and longer shunt duration and upper arm AVFs, male and non-DM group (p＜0.001).
Conclusions: The high vascular access flow (over 2L/min) were detected in 15% of hemodialysis patients and the upper arm fistula, young age, male, non-diabetic were significantly associated with high access flow. Due to the high vascular access flow could be progress to high output cardiac failure, the high vascular access flow should be carefully monitored in the hemodialysis patients with these factors.
