UNASSIGNED: Case 1 was a 7-year-old girl who presented with proteinuria and developmental delay, and her renal biopsy showed FSGS. She developed end-stage renal disease (ESRD) 3 years after onset. Case 2 was another 7-year-old girl who developed proteinuria only at age 3, and renal biopsy showed glomerular segmental mesangial proliferative lesions. The two girls underwent genetic testing but we did not find a positive result in the whole exon. However, cluster analysis revealed two new nonsense mutations of the TRIM8 gene (c.1461C>A, p.Tyr 487* and c.1453C>T, p.Gln485*).
UNASSIGNED: We reported the clinical manifestation of this neuro-renal syndrome for the first time in China. It is necessary to perform genetic testing in children with steroid-resistant significant proteinuria to identify its etiology and avoid the side effects of immunosuppressants.
病例1是一名7岁女孩,出现蛋白尿和发育迟缓,肾活检显示FSGS.她在发病3年后发展为终末期肾病(ESRD)。病例2是另一名7岁女孩,仅在3岁时出现蛋白尿,肾活检显示肾小球节段系膜增生性病变。这两个女孩接受了基因检测,但我们没有发现整个外显子的阳性结果。然而,聚类分析揭示了TRIM8基因的两个新的无义突变(c.1461C>A,p.Tyr487*andc.1453C>T,p.Gln485*)。
■我们首次报道了这种神经肾综合征的临床表现。有必要对具有类固醇抗性的显着蛋白尿的儿童进行基因检测,以确定其病因并避免免疫抑制剂的副作用。