மருத்துவ குழந்தை மருத்துவம்: திறந்த அணுகல்
திறந்த அணுகல்

சுருக்கம்

NPHS1 Gene Mutations in Children with Focal Segmental Glomerulosclerosis

Cui Bai, Yu Shan Li, Dan Li, Hongying Zheng, Geng Geng, Shihong Shao, Qiuye Zhang and Xingqing Guo

Objective: To summarize the clinical data of NPHSI gene mutation in a case of a child with focal segmental glomerulosclerosis (FSGS), to improve the understanding of NPHS1 mutation phenotype, to study the relationship between NPHSI gene mutation and FSGS.

Method: Medical history, laboratory examination results and family history of a child with FSGS were collected. Exon detection (NGS) was applied to perform a full-exon high-throughout sequencing on the child and her parents. Meanwhile, bioinformatics analysis was carried out. Sanger sequencing was used to verify the results of high-throughout sequencing, and relevant literature review was conducted.

Result: The proband: female, 7 years old, onset on her age of six, developed nephrotic syndrome, result did not turn to be negative when Glucocorticoid uroprotein was applied, renal pathology indicates FSGS. Family survey revealed that the father suffered nephrotic syndrome with a pathological diagnosis of membranous nephropathy. Sequencing found that the missense mutations of NPHS1 gene c.803G>A(carried by her father),c.1339G>A and c.1802G>C (carried by her mother)were found in the child. The c.1339G>A, c.1802G>C, which were predicted by Mutationtaster software as harmful mutations, and c.803G>A mutation as polymorphism. The c.1339G>A and c.1802G>C, which have to be proven as a pathogenic mutation carried by mother on NPHS1, while c.803G>A have not been reported at present.

Conclusion: NPHS1 mutation can cause nephritic syndrome with FSGS in children. Mutation c.803G>A is probably the newly discovered and further enrich the NPHS1 gene spectrum.