Serum Calcification Propensity T50 Associates with Disease Severity in Patients with Pseudoxanthoma Elasticum.
Serum Calcification Propensity T50 Associates with Disease Severity in Patients with Pseudoxanthoma Elasticum.
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DOI：
10.3390/jcm11133727
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发表时间：
2022-06-28
影响因子：
3.9
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中科院分区：
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弹性假性黄瘤（PXE）是一种以皮肤、眼睛和动脉进行性异位钙化为特征的遗传性疾病。由于缺乏可靠的生物标志物，PXE的治疗试验受到严重阻碍。血清钙化倾向T50是测定血清抗钙化缓冲能力的一项血液试验。在这里，我们评估了PXE患者的T50，旨在研究其决定因素及其作为疾病严重程度潜在生物标志物的适用性。本横断面研究纳入了57例PXE患者，并从医疗健康记录中收集了人口统计学、临床、影像学和生化数据。使用Phenodex评分评估PXE严重程度。T50采用一种有效的、以浊度法为基础的测定法进行测量。然后创建多变量模型来调查T50决定因素及其与疾病严重程度的关联。总之，患者的平均年龄为45.2岁，女性占68.4%，平均血清T50为347 min。多因素回归分析发现血清胎蛋白a （p < 0.001）、磷（p = 0.007）和镁水平（p = 0.034）是T50的重要决定因素，而血清钙、eGFR、血浆PPi水平或ABCC6基因型未发现相关性。校正协变量后，发现T50是PXE中眼部（p = 0.013）、血管（p = 0.013）和整体疾病严重程度（p = 0.016）的独立决定因素。总之，较短的血清t50（表明较高的钙化倾向）与PXE患者更严重的表型相关。该研究首次表明，血清T50可能是PXE的临床相关生物标志物，因此可能对未来的治疗试验具有重要意义。
Pseudoxanthoma elasticum (PXE) is a currently intractable genetic disorder characterized by progressive ectopic calcification in the skin, eyes and arteries. Therapeutic trials in PXE are severely hampered by the lack of reliable biomarkers. Serum calcification propensity T50 is a blood test measuring the functional anticalcifying buffer capacity of serum. Here, we evaluated T50 in PXE patients aiming to investigate its determinants and suitability as a potential biomarker for disease severity. Fifty-seven PXE patients were included in this cross-sectional study, and demographic, clinical, imaging and biochemical data were collected from medical health records. PXE severity was assessed using Phenodex scores. T50 was measured using a validated, nephelometry-based assay. Multivariate models were then created to investigate T50 determinants and associations with disease severity. In short, the mean age of patients was 45.2 years, 68.4% was female and mean serum T50 was 347 min. Multivariate regression analysis identified serum fetuin-A (p < 0.001), phosphorus (p = 0.007) and magnesium levels (p = 0.034) as significant determinants of T50, while no correlations were identified with serum calcium, eGFR, plasma PPi levels or the ABCC6 genotype. After correction for covariates, T50 was found to be an independent determinant of ocular (p = 0.013), vascular (p = 0.013) and overall disease severity (p = 0.016) in PXE. To conclude, shorter serum T50—indicative of a higher calcification propensity—was associated with a more severe phenotype in PXE patients. This study indicates, for the first time, that serum T50 might be a clinically relevant biomarker in PXE and may thus be of importance to future therapeutic trials.
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DOI：
10.1038/jid.2008.391
发表时间：
2009-06
期刊：
The Journal of investigative dermatology
影响因子：
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影响因子：
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CRIC Investigators
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发表时间：
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Kiss N
影响因子：
24
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Lanzer P;Hannan FM;Lanzer JD;Janzen J;Raggi P;Furniss D;Schuchardt M;Thakker R;Fok PW;Saez-Rodriguez J;Millan A;Sato Y;Ferraresi R;Virmani R;St Hilaire C
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