Clinical Pediatrics: Open Access
Open Access
ISSN: 2572-0775
ISSN: 2572-0775
Xingqing Guo
Children’s Medical Center, The Affiliated Hospital of Medical College,
Qingdao, Shandong
IR Iran
Original Article
NPHS1 Gene Mutations in Children with Focal Segmental Glomerulosclerosis
Author(s): Cui Bai, Yu Shan Li, Dan Li, Hongying Zheng, Geng Geng, Shihong Shao, Qiuye Zhang and Xingqing GuoCui 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 .. View More»