PDF(Pubmed)
Abstract：
UNASSIGNED: Elevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia.
UNASSIGNED: This multi-center, prospective study enrolled patients aged 3-216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed.
UNASSIGNED: Overall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p < 0.001).
UNASSIGNED: Questioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases.
UNASSIGNED: Clinicaltrials.gov NCT04120168.
UNASSIGNED: This multi-center, prospective study enrolled patients aged 3-216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed.
UNASSIGNED: Overall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p < 0.001).
UNASSIGNED: Questioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases.
UNASSIGNED: Clinicaltrials.gov NCT04120168.
摘要：
■转氨酶和/或肌酸磷酸激酶升高可指示潜在的肌肉疾病。因此,本研究旨在确定男性儿童Duchenne型肌营养不良症/Becker型肌营养不良症(DMD/BMD)的发生频率,以及男性和女性单纯的高转氨酶血症儿童Pompe病(PD)的发生频率.
■这个多中心，前瞻性研究纳入年龄在3~216个月,血清丙氨酸转氨酶(ALT)和/或天冬氨酸转氨酶(AST)水平>2×正常上限(ULN)≥3个月的患者.具有已知的肝脏或肌肉疾病病史或体格检查结果提示肝脏疾病的患者被排除。患者进行肌酐磷酸激酶（CPK）水平筛查，对男性患者进行DMD/BMD的分子遗传学检测，对CPK水平升高的男性和女性患者进行PD的酶学分析。遗传分析证实了PD。人口统计,临床,并对患者的实验室特征进行分析。
■总的来说，589名患者[66.8%为男性，平均年龄63.4个月(标准差:60.5)]纳入.总的来说,251名患者（188名男性和63名女性）的CPK水平高于ULN。在评估的患者中，47%(85/182)的男性患者诊断为DMD/BMD，1%(3/228)的男性和女性患者诊断为PD。ALT中位数，AST,CPK水平在统计学上显著升高，与没有DMD/BMD或PD的患者相比，有疑问的神经系统症状和以前未注意到的检查结果在DMD/BMD患者中更常见（p<0.001）。
■质疑神经系统症状，进行全面的体检，在孤立性高转氨酶血症患者中检测CPK水平将阻止昂贵且耗时的肝病调查，并将导致隐匿性神经肌肉疾病的诊断。
■临床试验NCT04120168。
■这个多中心，前瞻性研究纳入年龄在3~216个月,血清丙氨酸转氨酶(ALT)和/或天冬氨酸转氨酶(AST)水平>2×正常上限(ULN)≥3个月的患者.具有已知的肝脏或肌肉疾病病史或体格检查结果提示肝脏疾病的患者被排除。患者进行肌酐磷酸激酶（CPK）水平筛查，对男性患者进行DMD/BMD的分子遗传学检测，对CPK水平升高的男性和女性患者进行PD的酶学分析。遗传分析证实了PD。人口统计,临床,并对患者的实验室特征进行分析。
■总的来说，589名患者[66.8%为男性，平均年龄63.4个月(标准差:60.5)]纳入.总的来说,251名患者（188名男性和63名女性）的CPK水平高于ULN。在评估的患者中，47%(85/182)的男性患者诊断为DMD/BMD，1%(3/228)的男性和女性患者诊断为PD。ALT中位数，AST,CPK水平在统计学上显著升高，与没有DMD/BMD或PD的患者相比，有疑问的神经系统症状和以前未注意到的检查结果在DMD/BMD患者中更常见（p<0.001）。
■质疑神经系统症状，进行全面的体检，在孤立性高转氨酶血症患者中检测CPK水平将阻止昂贵且耗时的肝病调查，并将导致隐匿性神经肌肉疾病的诊断。
■临床试验NCT04120168。
