NPHS1基因突变致儿童激素耐药型肾病综合征1例报道
Case Report of Steroid-Resistant Nephrotic Syndrome Children Caused by Mutations in NPHS1
摘要: 本研究报道了1例激素耐药型肾病综合征(steroid-resistant nephrotic syndrome, SRNS)患儿，总结了患儿的症状、体征、主要辅助检查结果及治疗反应，并对其进行病理检查及肾脏相关致病基因检测。病理结果为局灶节段性肾小球硬化症，基因检测提示患儿NPHS1基因存在复合杂合突变(c.803G>A、c.1339G>A、c.1802G>C)，其中c.1339>A、c.1802G>C为致病突变，c.803G>A国内外未见报道。
Abstract: This study reported a case of steroid-resistant nephrotic syndrome child, by summarizing the child symptoms, signs, auxiliary examination results and treatment response, through pathological examination and kidney related pathogenic gene detection. The pathological result is focal segmental glomerulosclerosis, and the gene test indicated the presence of complex heterozygous mutation of NPHS1 (c.803G>A, c.1339G>A, c.1802G>C), c.1339G>A and c.1802G>C which are disease genes, and c.803G>A has not been reported at home and abroad.
文章引用：李丹, 林毅, 柏翠, 王大海, 张秋业. NPHS1基因突变致儿童激素耐药型肾病综合征1例报道[J]. 临床医学进展, 2019, 9(9): 1068-1072. https://doi.org/10.12677/ACM.2019.99164

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