PDF(Pubmed)
Abstract：
BACKGROUND: Cholesterol ester storage disease (CESD) is one of the rare causes that should be kept in mind in the etiology of cirrhosis. Recent studies detected that significantly reduced lysosomal acid lipase deficiency enzyme (LAL) in patients with cryptogenic cirrhosis (CC). Moreover, studies have evaluated that LAL activity is as effective as scoring systems in assessing the severity of cirrhosis. In this study, we aimed to investigate the CESD with LAL level and mutation analysis of LIPA gene in patients diagnosed with CC and to compare LAL activities between patients with CC and healthy volunteers.
METHODS: Laboratory parameters and cirrhosis stage (CHILD and MELD) were recorded for the patient group included in the study. In addition, blood samples were taken from each case included in the study for LAL activity determination and LIPA gene analysis.
RESULTS: A statistically significant decrease in LAL activity was found in patients diagnosed with CC compared to the healthy group. LIPA gene analysis did not detect CESD in any patient group. Correlation analysis showed a positive correlation between LAL activity and white blood cell and platelet counts in both healthy volunteers and CC patient groups. In the univariate and multivariate logistic regression analysis of the parameters associated with the MELD of ≥10 in patients with CC, significant relationship was found between the MELD of ≥10 and the LAL activity.
CONCLUSIONS: In our study, LAL activity was significantly lower in CC patients than in the normal population. LAL activity level appears to be a parameter that can be used to assess the severity of cirrhosis.
METHODS: Laboratory parameters and cirrhosis stage (CHILD and MELD) were recorded for the patient group included in the study. In addition, blood samples were taken from each case included in the study for LAL activity determination and LIPA gene analysis.
RESULTS: A statistically significant decrease in LAL activity was found in patients diagnosed with CC compared to the healthy group. LIPA gene analysis did not detect CESD in any patient group. Correlation analysis showed a positive correlation between LAL activity and white blood cell and platelet counts in both healthy volunteers and CC patient groups. In the univariate and multivariate logistic regression analysis of the parameters associated with the MELD of ≥10 in patients with CC, significant relationship was found between the MELD of ≥10 and the LAL activity.
CONCLUSIONS: In our study, LAL activity was significantly lower in CC patients than in the normal population. LAL activity level appears to be a parameter that can be used to assess the severity of cirrhosis.
摘要：
背景：胆固醇酯贮积病（CESD）是肝硬化病因中应牢记的罕见原因之一。最近的研究发现，显着降低隐源性肝硬化（CC）患者的溶酶体酸性脂肪酶缺乏酶（LAL）。此外，研究已经评估了LAL活性在评估肝硬化严重程度方面与评分系统一样有效。在这项研究中,我们旨在调查诊断为CC患者的CESD与LAL水平和LIPA基因突变分析,并比较CC患者和健康志愿者的LAL活性.
方法：记录纳入研究的患者组的实验室参数和肝硬化分期（CHILD和MELD）。此外,从研究中包括的每个病例中采集血液样本，用于LAL活性测定和LIPA基因分析。
结果：与健康组相比，诊断为CC的患者的LAL活性有统计学意义的降低。LIPA基因分析在任何患者组中均未检测到CESD。相关分析表明，健康志愿者和CC患者组的LAL活性与白细胞和血小板计数呈正相关。在CC患者与MELD≥10相关的参数的单变量和多变量逻辑回归分析中，MELD≥10与LAL活性之间存在显著关系。
结论：在我们的研究中，CC患者的LAL活性明显低于正常人群。LAL活性水平似乎是可用于评估肝硬化严重程度的参数。
方法：记录纳入研究的患者组的实验室参数和肝硬化分期（CHILD和MELD）。此外,从研究中包括的每个病例中采集血液样本，用于LAL活性测定和LIPA基因分析。
结果：与健康组相比，诊断为CC的患者的LAL活性有统计学意义的降低。LIPA基因分析在任何患者组中均未检测到CESD。相关分析表明，健康志愿者和CC患者组的LAL活性与白细胞和血小板计数呈正相关。在CC患者与MELD≥10相关的参数的单变量和多变量逻辑回归分析中，MELD≥10与LAL活性之间存在显著关系。
结论：在我们的研究中，CC患者的LAL活性明显低于正常人群。LAL活性水平似乎是可用于评估肝硬化严重程度的参数。
