"预测 1 型糖尿病青少年患者的糖尿病肾病:遗传风险评估的启示"

IF 2.9 3区 医学 Q3 ENDOCRINOLOGY & METABOLISM Journal of diabetes and its complications Pub Date : 2024-08-13 DOI:10.1016/j.jdiacomp.2024.108833
Ferda Evin , Tarık Kırkgöz , Tahir Atik , Güneş Ak , Timur Köse , Caner Kabasakal , Behzat Özkan , Samim Özen , Şükran Darcan , Damla Gökşen
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引用次数: 0

摘要

目的糖尿病肾病(DKD)受多种因素影响,但其确切的进展机制在很大程度上仍不清楚。本研究旨在根据 AFF3、CARS、CERS2、ERBB4、GLRA3、RAET1L、TMPO 和 ZMIZ1 基因的基因多态性建立临床风险评分系统。结果 在 43 个 DKD 病例中,22 个是女孩,21 个是男孩。确诊为中度白蛋白尿时,平均体重 SDS 为 -0.24 ± 0.94,身高 SDS 为 0.34 ± 1.15,体重指数 SDS 为 -0.26 ± 0.94。收缩压处于第 72 百分位数(2-99),舒张压处于第 74 百分位数(33-99)。在 DKD 组和非并发糖尿病组之间,rs267734、rs267738 和 rs942263 多态性存在显著差异(13[30.2 %] vs 5[11.6%],p = 0.034;14[32.6 %] vs 5[11.6%],p = 0.019;26[60.结论发现了几个对 DKD 发病有显著影响的因素,包括随访体重 SDS 偏低、舒张压升高、rs267734 多态性的存在和 rs942263 多态性的缺失。该模型的特异性为 81.4%,灵敏度为 74.4%。
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“Predicting diabetic kidney disease in youth with type 1 diabetes: Insights from genetic risk assessment”

Objective

Diabetic kidney disease (DKD) is influenced by multiple factors, yet its precise progression mechanisms remain largely unclear. This study aimed to create a clinical risk-scoring system based on genetic polymorphisms in the AFF3, CARS, CERS2, ERBB4, GLRA3, RAET1L, TMPO, and ZMIZ1 genes.

Methods

The study included a DKD group diagnosed with diabetic kidney disease before age 18 and a WDC group matched by age, gender, and age at diabetes diagnosis. Genetic data and clinical data from diabetes diagnosis to moderately increased albuminuria (MIA) detection were compared between the groups.

Results

Among 43 DKD cases, 22 were girls and 21 were boys. At MIA diagnosis, mean body weight SDS was −0.24 ± 0.94, height SDS was 0.34 ± 1.15, and BMI SDS was −0.26 ± 0.94. Systolic blood pressure was at the 72nd percentile (2–99), and diastolic blood pressure was at the 74th percentile (33–99). Significant differences in rs267734, rs267738, and rs942263 polymorphisms were found between DKD and non-complication diabetic groups (13[30.2 %] vs 5[11.6 %], p = 0.034; 14[32.6 %] vs 5[11.6 %], p = 0.019; 26[60.5 %] vs 40[93 %], p < 0.001).

Conclusion

Several factors were identified as significant in DKD onset, including low follow-up weight SDS, elevated diastolic blood pressure, presence of rs267734, and absence of rs942263 polymorphisms. The model demonstrated a specificity of 81.4 % and a sensitivity of 74.4 %.

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来源期刊
Journal of diabetes and its complications
Journal of diabetes and its complications 医学-内分泌学与代谢
CiteScore
5.90
自引率
3.30%
发文量
153
审稿时长
16 days
期刊介绍: Journal of Diabetes and Its Complications (JDC) is a journal for health care practitioners and researchers, that publishes original research about the pathogenesis, diagnosis and management of diabetes mellitus and its complications. JDC also publishes articles on physiological and molecular aspects of glucose homeostasis. The primary purpose of JDC is to act as a source of information usable by diabetes practitioners and researchers to increase their knowledge about mechanisms of diabetes and complications development, and promote better management of people with diabetes who are at risk for those complications. Manuscripts submitted to JDC can report any aspect of basic, translational or clinical research as well as epidemiology. Topics can range broadly from early prediabetes to late-stage complicated diabetes. Topics relevant to basic/translational reports include pancreatic islet dysfunction and insulin resistance, altered adipose tissue function in diabetes, altered neuronal control of glucose homeostasis and mechanisms of drug action. Topics relevant to diabetic complications include diabetic retinopathy, neuropathy and nephropathy; peripheral vascular disease and coronary heart disease; gastrointestinal disorders, renal failure and impotence; and hypertension and hyperlipidemia.
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