NPHS1基因突变致先天性肾病综合征2例报告

Congenital nephrotic syndrome caused by NPHS1 gene mutation: two case report

目的分析NPHS1基因突变致先天性肾病综合征的临床及基因突变特点。方法回顾分析2例由NPHS1基因突变致先天性肾病综合征患儿的临床特点,并复习相关文献。结果 2例女性患儿,均于出生后3个月内起病,临床表现为肾病综合征,否认肾脏疾病家族史。对患儿及其父母进行全外显子检测,均存在NPHS1基因复合杂合突变。例1c. 2629_c. 2630 delAAinsT(exon 19)来自父亲,c. 1315+1 (IVS 10)G>A来自母亲,均未见文献报道。例2 c. 2205(exon 16)_c.2206insTGGAC(exon16)来自母亲,未见报道;c.3478C>T(exon27)来自父亲,已有文献报道。根据ACMG评分,c.1315+1(IVS10)G>A、c.2205(exon16)_c.2206insTGGAC(exon16)、c.3478C>T(exon27)均为致病性,c.2629_c.2630delAAinsT(exon19)为可能致病。结论先天性肾病综合征患儿应考虑行NPHS1基因检测。

Objective To explore the clinical and gene mutation characteristics of congenital nephrotic syndrome caused by NPHS1 gene mutation. Methods The clinical characteristics of congenital nephrotic syndrome caused by mutation of NPHS1 gene in 2 children were retrospectively analyzed, and the related literature was reviewed. Results The age at onset was 3 months after birth in both girls who presented nephrotic syndrome without family history of renal disease. The whole exon detection was performed in all the children and their parents and both girls had NPHS1 gene complex heterozygous mutation. In case 1, c.2629_c.2630 delAAinsT (exon 19) was from her father and c.1315+1 (IVS 10) G > A was from her mother, and the two mutations have not been reported in the literature. In Case 2, c.2205 (exon16)_c.2206instggac (exon16) was from her mother, but no report was found;C. 3478C >t (exon27) was from her father, which has been reported in the literature. According to the ACMG score, c.1315+1 (IVS10) G>A, c.2205 (exon 16)_c.2206 insTGGAC (exon 16), c.3478C > T (exon 27) were all pathogenic, and c.2629_c.2630 del AAinsT (exon 19) was possibly pathogenic. Conclusion Children with congenital nephrotic syudrome should be considered for NPHS1 gene testing.