PDF(Pubmed)
Abstract：
UNASSIGNED: TRIM8 gene mutations have been reported as the genetic basis of autosomal dominant (AD) neuro-renal syndrome in children, which presents with epileptic encephalopathy, focal segmental glomerulosclerosis (FSGS), developmental delay, and mental retardation. In this study, we report the cases of two children with significant proteinuria due to de novo nonsense mutations of the TRIM8 gene.
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.
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.
摘要：
■TRIM8基因突变已被报道为儿童常染色体显性遗传（AD）神经肾综合征的遗传基础，表现为癫痫性脑病，局灶性节段肾小球硬化（FSGS），发育迟缓,和智力迟钝。在这项研究中,我们报告了2例由于TRIM8基因的从头无义突变而导致显著蛋白尿的儿童。
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。
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。
