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한국인 좌심실 비대증 환자들에서 파브리병 선별검사의 의의
박형두,조성윤,이수연,전은석,박승우,이상훈,이상철,최진오,박성지,장성아,김형관,기창석,김종원,진동규,Park, Hyeong-Du,Jo, Seong-Yun,Lee, Su-Yeon,Jeon, Eun-Seok,Park, Seung-U,Lee, Sang-Hun,Lee, Sang-Cheol,Choe, Jin-O,Park, Seong-Ji,Jang, Seong-A,K 대한유전성대사질환학회 2014 대한유전성대사질환학회지 Vol.14 No.2
목적: 파브리병(Fabry disease)은 alpha-galactosidase A의 결핍으로 인하여 리소좀에 globotriaosylceramide(Gb3)가 축적되어 여러 장기에 이상을 일으키는 질병이다. 본 연구에서는 파브리병의 만성 합병증 중 심장 질환을 주로 보이는 환자들, 그 중에서도 좌심실 비대증을 보이는 한국인 환자들을 대상으로 파브리병의 빈도를 알아보고자 하였다. 방법: 좌심실비대증을 진단받은 환자 257명을 연구대상으로 선정하였고, 남성이 172명(평균 56세, 범위 30-81세), 여성이 84명(평균 66세, 범위 45-85세)이었다. 파브리병 선별을 위하여 고성능액체크로마토그래피-탠덤질량분석기를 이용하여 소변 Gb3 농도를 측정하였다. 확진은 형광분석법에 의한 말초혈액의 alpha-galactosidase A 활성도와 염기서열분석법에 의한 GLA 유전자 돌연변이 유무를 검사하여 이루어졌다. 결과: 소변 Gb3 검사에서 cutoff (25 ug/mmoL creatinine)를 초과하는 환자는 4명이었지만, 최종적으로 추가 검사를 통해 진단된 파브리병 환자는 여성 환자 한 명이었다(1/257명, 0.4%). 확진된 환자는 54.3 ug/mmoL creatinine의 Gb3 농도와 15.5 nmole/hr/mg protein (참고범위, $55.2{\pm}12.7nmole/hr/mg$ protein)의 alpha-galactosidase A 활성도를 보였다. GLA 유전자에서는 c.796G>A (p.D266N) 돌연변이가 이형접합체로 관찰되었다. 추가로 시행한 가족검사에서 환자의 딸은 아직 파브리병의 증상을 보이지 않았지만, 엄마와 같은 GLA 돌연변이(c.796G>A)를 가지고 있었으며, alpha-galactosidaseA 활성도는 42.5 nmole/hr/mg protein, 소변 Gb3 농도는 25.5 ug/mmoL creatinine을 나타냈다. 결론: 한국인 좌심실 비대증을 가진 환자들에서 파브리병의 유병율은 0.4%였다. 유병율이 낮아 보임에도 불구하고, 파브리병 진단 전 환자와 가족 구성원을 발견할 수 있는 장점 덕분에 선별검사의 의의가 있는 것으로 사료된다. Objectives: Fabry disease (FD) is a lysosomal storage disease caused by the inappropriate accumulation of globotriaosylceramide (Gb3) in tissues due to a deficiency in the enzyme ${\alpha}$-galactosidase A. Hypertrophic cardiomyopathy is one of the chronic complications of FD. We tried to evaluate the prevalence of Fabry disease in the Korean patients with left ventricular hypertrophy (LVH). Methods: A total of 257 patients with LVH were recruited and they were 172 males (mean 56 years, range 30-81 years) and 84 females (mean 66 years, range 45-85 years). Urinary Gb3 was used to screen FD by high performance liquid chromatography-tandem mass spectrometry. Confirmatory tests were done by alpha-galactosidaseA activity using fluorometric assay and by GLA mutation analysis using sequencing. Results: Four patients were screening positive by urinary Gb3 analysis (cutoff, 25 ug/mmol creatinine). But, one female patient was diagnosed with FD confirmed by enzyme analysis in leukocytes as well as by genetic analysis (1/257 patients, 0.4%). She showed 54.3 ug/mmoL creatinine of Gb3 and 15.5 nmole/hr/mg protein (reference range, $55.2{\pm}12.7nmole/hr/mg$ protein) of alphagalactosidase A activity. And she had a heterozygous GLA mutation of c.796G>A (p.D266N). Her daughter was found to be a carrier for FD confirmed by GLA mutation analysis. Asymptomatic carrier showed 25.5ug/mmol creatinine of Gb3 and 42.5 nmole/hr/mg protein (reference range, $55.2{\pm}12.7nmole/hr/mg$ protein) of alpha-galactosidase A activity. Conclusions: The prevalence of FD in Koran patients with LVH was detected as 0.4%. Although the prevalence seems to be low, screening studies are of great importance for detecting hidden cases as well as for identifying other effected family members.
관상동맥질환에서 좌심실조영상 분석을 통한 국소심근벽운동 평가에 관한 연구
김준수(Jun Soo Kim),전은석(Eun Seok Jeon),김명아(Myung Ah Kim),김효수(Hyo Soo Kim),오병희(Byung Hee Oh),박영배(Young Bae Park),최윤식(Yun Shik Choi),서정돈(Jung Don Seo),이영우(Young Woo Lee) 대한내과학회 1987 대한내과학회지 Vol.32 No.6
N/A Left ventricular regional dysfunction is a sensitive marker of coronary artery disease. In recent years, noninvasive methods utilizing two-dimensional echocardiography and gated blood pool scan have been used to assess regional ventricular function. But the contrast left ventriculogram has remained as the reference standard by which other clinically applicable methods have been evaluated, For the quantitative assessment of regional wall motion abnormalities with contrast left vetriculogram, we measured regional percent shortening by radial method in 30 patients with acute myocardial infartion, 19 patients with angina pectoris and 21 normal controls. The results obtained were as follows: 1) Mean regional percent shortenings were not significantly different between control and angina group. 2) Mean regional percent shortenings of anteroseptal and inferior myocardial infarction subgroups were significantly lower than those of control group in region 11-22 and region 5-13, respectively(p<0,05, both). 3) Global left ventricular ejection fraction was 76.8±6.8% (mean±SD) in control group, 75.4±7.6% in angina group, 51.9±13.3% in anteroseptal myocardial infarction subgroup and 59.9±5.5% in inferior myocardial infarction subgroup. The values of anteroseptal and inferior myocardial infarction subgoups were significantly lower than those of control and angina groups(p<0.05). 4) Therefore, analysis of regional wall motion by left ventriculogram was very useful to quantitate regional wall motion abnormalities in patients with coronary artery disease.
삼첨판 폐쇄부전 환자에서 도플러 심에코도를 이용한 우심실 수축기압 및 폐동맥평균압의 추정
김유호(You Ho Kim),전은석(Eun Seok Jeon),손대원(Dae Won Sohn),오병희(Byung Hee Oh),박영배(Young Bae Park),최윤식(Yun Shik Choi),서정돈(Jung Don Seo),이영우(Young Woo Lee) 대한내과학회 1987 대한내과학회지 Vol.32 No.5
N/A The comparison between the results of right ventricular systolic pressure and mean pulmonary artery pressure using catheterization and that of right ventricular systolic pressure and right ventricular systolic time intervals using Doppler echocardiography in patients with tricuspid regurgitation as follows: 1) Adding the tranatricuspid gradient (△P) to the JVP gave prediction of right ventricular systolic pressure (RVSP) that correlated well with catheterization values. 2) There was also significant correlation between the transtricuspid gradient predicted by Doppler echocardiography and RVSP by catheterization. 3) As the mean pulmonary artery pressure (MPAP) increased, the PEP/AT also increased, while AT/ET decreased. When MPAP was less than 20 mmHg, PEP/AT, AT/ET were 1.06±0.12, 0.40±0.05 respectively, while when MPAP was between 20 and 39 mmHg, PEP/AT, AT/ET were 1.37±0.25, 0.33±0.05, and when MPAP was over 40 mmHg, PEP/AT, AT/ET were 1.65±0.21, 0.26±0.03. 4) There was significant correlation hetween the results of PEP/AT obtained by Doppler echocardiography and MPAP obtained by catheterization and negative correlation between the results of AT/ET by Doppler echocardiography and MPAP by catheterization.
류마티스 관절염 환자에서 심장 조직 검사로 확진된 아밀로이드 단백 A 심장 아밀로이드증
황지원 ( Ji Won Hwang ),전은석 ( Eun Seok Jeon ),하정민 ( Jung Min Ha ),이우주 ( Woo Joo Lee ),김은 ( Eun Kim ),윤세효 ( Sehyo Yune ) 대한내과학회 2014 대한내과학회지 Vol.86 No.6
Amyloidosis can be identified by the deposition of amyloid fibrils in biopsy specimens from multiple organs, including the heart, kidney, skin, and bowel. Systemic amyloid protein A amyloidosis (AA amyloidosis) is commonly associated with chronic inflammatory diseases or chronic infectious conditions. Cardiac involvement in AA amyloidosis is found in < 1% of reported cases. Here, we report a case of cardiac AA amyloidosis confirmed by heart biopsy in a 54-year-old-female with a medical history of rheumatoid arthritis and stage 4 chronic kidney disease due to renal amyloidosis. She had suffered from progressive aggravation of dyspnea for 2 years. Infiltrative disease involving the heart was suspected by echocardiography, and the patient was diagnosed with AA amyloidosis involving the heart by cardiac biopsy. This is a rare case of cardiac involvement in a patient with systemic AA amyloidosis associated with rheumatoid arthritis. (Korean J Med 2014;86:739-743)
한국인 원발성 고콜레스테롤혈증 환자에서 Ezetimibe와 Simvastatin 병용투여의 유효성과 안전성에 관한 연구
배장환 ( Jang Whan Bae ),김효수 ( Hyo Soo Kim ),이상철 ( Sang Chol Lee ),한기훈 ( Ki Hoon Han ),전은석 ( Eun Seok Jeon ) 대한내과학회 2005 대한내과학회지 Vol.68 No.5
Background : The prevalence of hypercholesterolemia in Korea is growing. In spite of the wide use of HMG-CoA reductase inhibitors (statins), some patients don`t reach optimal cholesterol reduction and suffer hepatotoxicity or myopathy. Combination therapy