背景：Podocin突变的特征是进展为终末期肾病和局灶节段肾小球硬化（FSGS）的组织学发现。CD80是一种足细胞蛋白，可能在蛋白尿中起作用，特别是在微小变化疾病中，而可溶性尿激酶受体（suPAR）在FSGS患者的血清中特征性升高。
方法：在患有肾病综合征和podocin突变的患者中，使用市售试剂盒测量尿和血清CD80以及suPAR.通过蛋白质印迹分析确定尿CD80分子大小。进行CD80和podocin的肾小球染色。
结果：与对照组相比，患者表现出明显升高的CD80和轻度升高的suPAR尿水平。血清CD80水平在正常对照中观察到的范围内。血清suPAR水平升高,尽管在原发性FSGS患者的报告范围较低。肾活检免疫荧光检查显示肾小球CD80表达。
结论：血清和尿液生物标志物的组合可以帮助区分各种形式的FSGS。高尿CD80和升高的血清和尿suPAR可能代表了将FSGS的这种遗传形式与原发性FSGS区分开的特征。
BACKGROUND: Podocin mutations are characterized by progression to end stage renal disease and histologic findings of Focal Segmental Glomerulosclerosis (FSGS). CD80 is a podocytes protein that may play a role in proteinuria, particularly in Minimal Change Disease whereas the soluble urokinase receptor (suPAR) is characteristically elevated in the serum of FSGS patients.
METHODS: In a patient with nephrotic syndrome and podocin mutation, urinary and serum CD80 as well as suPAR were measured using commercially available kits. Urinary CD80 molecular size was determined by western blot analysis. Glomerular staining for CD80 and podocin was performed.
RESULTS: Patient displayed marked elevated CD80 and mildly increased suPAR urinary levels compared to controls. Serum CD80 level was within the range observed in normal controls. Serum suPAR level was elevated, albeit in the lower range reported for patients with primary FSGS. Immunofluorescence examination of kidney biopsy revealed glomerular CD80 expression.
CONCLUSIONS: The combination of serum and urinary biomarkers can help differentiate various forms of FSGS. High urinary CD80 and elevated serum and urinary suPAR might represent a profile to differentiate this genetic form of FSGS from primary FSGS.
