폼페병의 진단 및 치료효과 확인을 위한 초고성능 액체크로마토그래피-탠덤질량분석기를 이용한 소변 포도당 사당류(Glc4) 측정법의 평가
Evaluation of the Urinary Glucose Tetrasaccharide Assay Using Ultra-performance Liquid Chromatography-Tandem Mass Spectrometry for Diagnosis of Pompe Disease
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초록
본 연구에서는 초고성능 액체크로마토그래피-탠덤질량분석기를(UPLC-MS/MS) 이용한 소변 포도당 사당류(Glc4) 측정법에 대해 평가하였다. 직선성 평가에서 5-500 μmol/L의 범위에서 직선성을 보였고, 일내정밀도와 일간정밀도 변이계수는 각각 6.52-14.6%, 11.5-13.2%를 보였다. 27명의 정상대조군 및 3명의 가성결핍 환자들의 Glc4 평균값은 각각 1.5, 12.1 mmol/mol 크레아티닌이었다. 폼페병 환자의 진단 당시 Glc4 측정값은 171.3 mmol/mol 크레아티닌이었으며 효소대체치료를 받은 후에 130.9 mmol/mol 크레아티닌으로 감소하였다. 따라서 UPLC MS/MS를 이용한 소변 Glc4 측정은 폼페병의 진단에 보조적인 생물학적 표지자로 활용될 수 있을 것이다.
Abstract
We evaluated the urinary glucose tetrasaccharide (Glc4) assay using ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS). The calibration curve was linear over a range of 5-500 μmol/L. Performance parameters such as intra- and inter-day imprecision CVs were 6.52-14.6% and 11.5-13.2%, respectively. The mean concentrations of urinary Glc4 in 27 normal controls and 3 pseudodeficiency patients were 1.5 and 12.1 mmol/mol creatinine, respectively. Urinary Glc4 concentration in a patient with Pompe disease was 171.3 mmol/mol creatinine, which decreased to 130.9 mmol/mol following enzyme replacement therapy. Based on our results, we suggest that the urinary Glc4 assay using UPLC-MS/MS can be a reliable diagnostic tool for identification of patients with Pompe disease.
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