Department of Metabolic Diseases, Jagiellonian University Medical College, 15 Kopernika Street, 31-501, Krakow, Poland.
Acta Diabetol. 2013 Oct;50(5):815-20. doi: 10.1007/s00592-012-0378-1. Epub 2012 Feb 19.
Cystatin C is a marker of glomerular filtration rate (GFR). Its level is influenced, among the others, by CRP whose concentration is decreased in HNF1A-MODY. We hypothesized that cystatin C level might be altered in HNF1A-MODY. We aimed to evaluate cystatin C in HNF1A-MODY both as a diagnostic marker and as a method of assessing GFR. We initially examined 51 HNF1A-MODY patients, 56 subjects with type 1 diabetes (T1DM), 39 with type 2 diabetes (T2DM) and 43 non-diabetic individuals (ND) from Poland. Subjects from two UK centres were used as replication panels: including 215 HNF1A-MODY, 203 T2DM, 39 HNF4A-MODY, 170 GCK-MODY, 17 HNF1B-MODY and 58 T1DM patients. The data were analysed with additive models, adjusting for gender, age, BMI and estimated GFR (creatinine). In the Polish subjects, adjusted cystatin C level in HNF1A-MODY was lower compared with T1DM, T2DM and ND (p < 0.05). Additionally, cystatin C-based GFR was higher than that calculated from creatinine level (p < 0.0001) in HNF1A-MODY, while the two GFR estimates were similar or cystatin C-based lower in the other groups. In the UK subjects, there were no differences in cystatin C between HNF1A-MODY and the other diabetic subgroups, except HNF1B-MODY. In UK HNF1A-MODY, cystatin C-based GFR estimate was higher than the creatinine-based one (p < 0.0001). Concluding, we could not confirm our hypothesis (supported by the Polish results) that cystatin C level is altered by HNF1A mutations; thus, it cannot be used as a biomarker for HNF1A-MODY. In HNF1A-MODY, the cystatin C-based GFR estimate is higher than the creatinine-based one.
半胱氨酸蛋白酶抑制剂 C 是肾小球滤过率 (GFR) 的标志物。其水平受 CRP 等因素的影响，而 CRP 在 HNF1A-MODY 中浓度降低。我们假设 HNF1A-MODY 中胱抑素 C 水平可能会发生改变。我们旨在评估 HNF1A-MODY 中的胱抑素 C 作为诊断标志物和评估 GFR 的方法。我们最初检查了来自波兰的 51 名 HNF1A-MODY 患者、56 名 1 型糖尿病 (T1DM) 患者、39 名 2 型糖尿病 (T2DM) 患者和 43 名非糖尿病患者 (ND)。来自英国两个中心的受试者被用作复制面板：包括 215 名 HNF1A-MODY、203 名 T2DM、39 名 HNF4A-MODY、170 名 GCK-MODY、17 名 HNF1B-MODY 和 58 名 T1DM 患者。数据采用加性模型进行分析，调整性别、年龄、BMI 和估计的 GFR（肌酐）。在波兰受试者中，与 T1DM、T2DM 和 ND 相比，HNF1A-MODY 中调整后的胱抑素 C 水平较低（p<0.05）。此外，在 HNF1A-MODY 中，基于胱抑素 C 的 GFR 高于基于肌酐的 GFR（p<0.0001），而在其他组中，两种 GFR 估计值相似或基于胱抑素 C 的 GFR 较低。在英国受试者中，除了 HNF1B-MODY 外，HNF1A-MODY 与其他糖尿病亚组之间的胱抑素 C 没有差异。在英国 HNF1A-MODY 中，基于胱抑素 C 的 GFR 估计值高于基于肌酐的 GFR（p<0.0001）。总之，我们不能证实我们的假设（得到波兰结果的支持），即 HNF1A 突变会改变胱抑素 C 水平；因此，它不能作为 HNF1A-MODY 的生物标志物。在 HNF1A-MODY 中，基于胱抑素 C 的 GFR 估计值高于基于肌酐的 GFR。
