| 刘翔,吴晓丽,汤绚丽,朱虹,王华,邵迎盈,陈洪宇,张敏鸥.基因检测对评估肾小球基底膜异常肾病的临床价值[J].浙江中西医结合杂志,2025,35(5): |
| 基因检测对评估肾小球基底膜异常肾病的临床价值 |
| The clinical value of genetic testing in the evaluation of nephropathy associated with glomerular basement membrane abnormalities |
| 投稿时间：2024-04-04 修订日期：2024-09-13 |
| DOI： |
| 中文关键词: 基因检测 基因突变 肾小球基底膜异常肾病 COL4A3/4/5 |
| 英文关键词:Genetic testing Genetic mutations Glomerular basement membrane abnormalities nephropathy COL4A3/4/5 |
| 基金项目:国家中医药管理局第四届国医大师/全国名中医传承工作室建设项目(国中医药办人教函（2022）245号） |
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| 中文摘要: |
| 目的 探讨基因检测对肾小球基底膜异常相关肾病的进展和预后的价值。方法 回顾性分析2018年5月至2023年7月于杭州市中医院肾病科住院治疗的36例有持续性肾小球源性血尿伴蛋白尿(24h尿蛋白定量≥0.2g),肾小球基底膜(Glomerular basement membrane,GBM)结构异常并完善基因检测者的临床资料。据基因检测结果将其分为肾小球基底膜Ⅳ型胶原(Collagen type IV, COL4A3/4/5)基因突变组(A组)和非突变组(B组),比较两组临床特点及影响因素。结果 治疗前两组患者临床资料无统计学差异。治疗后A组患者24h尿蛋白定量、血尿酸水平均高于B组,差异有统计学意义(P＜0.05)。经治疗后,基因突变组(A组)蛋白尿缓解人次(2/18),非突变组(B组)蛋白尿缓解人次(11/17)；单因素和多因素Logistic回归分析显示COL4A3/4/5基因突变是蛋白尿未缓解的独立危险因素(单因素分析OR=14.667,95%CI 2.486~86.529,P＜0.05；多因素分析 OR=9.991,95%CI 1.516~65.870,P＜0.05)。配对t检验和Wilcoxon符号秩检验分析显示,A组患者治疗后的尿素氮水平较治疗前升高,差异有统计学意义(P＜0.05),而血肌酐、24h尿蛋白定量、血清白蛋白、血尿酸、eGFR与治疗前相比差异无统计学意义(P＞0.05 )。B组患者治疗后的24h尿蛋白定量、血尿酸较治疗前降低,差异有统计学意义(P＜0.05),血清白蛋白较治疗前上升,差异有统计学意义(P＜0.05),血肌酐、eGFR与治疗前相比差异无统计学意义(P＞0.05 )。结论 COL4A3/4/5基因突变对肾小球基底膜异常相关肾病患者蛋白尿的预后不良相关。 |
| 英文摘要: |
| Objective To investigate the value of genetic testing in progression and prognosis of glomerular basement membrane abnormalities associated with nephropathy. Methods The data of 36 patients who were hospitalized in the Department of Nephrology of Hangzhou Hospital of Traditional Chinese Medicine from May 2018 to July 2023 with persistent glomerular hematuria with proteinuria (24-hour urine protein quantification ≥0.2g), with indications for renal biopsy and complete renal biopsy, and with electron microscopy showing structural abnormalities of glomerular basement membrane and complete genetic testing, were collected. According to the genetic test report, the patients were divided into glomerular basement membrane type IV collagen COL4A3 or COL4A4 or COL4A5 (COL4A3/4/5) gene mutation group (group A) and non-mutation group (group B). The clinical and pathological characteristics of the two groups were compared. Results There was no significant difference in clinical data between the two groups before treatment. After treatment, the 24-hour urine protein quantification and blood uric acid level in group A were significantly higher than those in group B (P<0.05). After treatment, the number of proteinuria remissions in the gene mutation group (group A) and the number of proteinuria remissions in the non-mutation group (group B) (11/17) were (2/18). Univariate and multivariate Logistic regression analysis showed that COL4A3/4/5 gene mutations were independent risk factors for unrelieved proteinuria? (univariate analysis, OR=14.667, 95%CI 2.486~86.529, P<0.05; multivariate analysis OR=9.991, 95%CI 1.516~65.870, P＜0.05). The paired t-test and Wilcoxon sign-rank test showed that the level of urea nitrogen in group A was significantly higher than that before treatment (P<0.05), while there was no significant difference in serum creatinine, 24-hour urine protein quantification, serum albumin, serum uric acid and eGFR compared with that before treatment (P>0.05). The 24-hour urine protein quantification and serum uric acid in group B were significantly lower than those before treatment (P<0.05), serum albumin was significantly higher than before treatment (P<0.05), and serum creatinine and eGFR were not statistically significant compared with those before treatment (P>0.05). Conclusion COL4A3/4/5 gene mutations are associated with poor prognosis of proteinuria in patients with glomerular basement membrane abnormalities associated with nephropathy. |
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