Chinese Medical E-ournals Database

Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition) ›› 2013, Vol. 09 ›› Issue (03): 323 -329. doi: 10.3877/cma.j.issn.1673-5250.2013.03.010

Special Issue:

Original Article

Causes Analysis of 36 Children With Focal Segmental Glomerulosclerosis

Guo­min LI1, Hong XU1(), Yi­hui ZHAI2, Xue­wu GAO1, qian SHEN1, Xiao­e ZHAO1, Yu AN2, Xiao­yan FANG1   

  1. 1. Children's Hospital of Fudan University, Shanghai 201102, China
  • Received:2013-04-16 Revised:2013-05-07 Published:2013-06-01
  • Corresponding author: Hong XU
  • About author:
    (Corresponding author: XU Hong, Email: )
Objective

To investigate the causes of children with focal segmental glomerulosclerosis(FSGS).

Methods

From January 1979 to December 2011, 36 clinical data of FSGS children who took renal biopsy were included in the study, and their clinical features were analyzed retrospectively. Sequencing of all NPHS2 exons, WT1 exon 8, 9 and analysis of 42 mutation spots about NPHS1, CD2AP, PLCε1, APOL1, TRPC6, INF2, MYH9 and MYO1E by Snapshot technology were performed in follow-up patients with unknown cause FSGS. The study protocol was approved by the Ethical Review Board of Investigation in Human Being of Children's Hospital of Fudan University.

Results

There were 10 FSGS children with clear causative lesion(27.8%), which were low birth weight infants(LBWI, 2 cases), minimal change disease(MCD, 2 cases), hepatitis C(1 case), vesicoureteral reflux(VUR, 1 case), Galloway-Mowat syndrome (GMS, 1 case), Denys-Drash syndrome (DDS, 1 case), IgA nephropathy (1 case)and familial FSGS (1 case). There were 26 FSGS children with unknown cause(72.2%). Gene and its mutation analysis were conducted in 6 follow-up FSGS children with unknown cause and 1 DDS children.2 children (including 1 DDS child) have WTI mutations which were both heterozygous ARG394TRP mutation.

Conclusions

Causes of FSGS are diverse, LBWI is one of the important causes of FSGS. FSGS children with unknown cause are still the majority, but pathogenic mutations may be found by gene analysis in these patients.We should use genetic molecular techniques to analyze unknown causes of FSGS in children.

表1 8个基因共计42个相关突变位点
Table 1 42 position of mutations in 8 genes
表2 10例病因明确FSGS患儿的临床特点
Table 2 Clinical features of 10 FSGS patients with clear causative lesion
图1 2例WT1突变图(箭头示突变位点)
Figure 1 Sequencing of WT1 exon 8, 9(The arrows indicate mutant positions)
表3 6例坚持随访且病因不明FSGS患儿临床特点和基因突变位点结果
Table 3 Clinical features and position of mutations of 6 FSGS patients with unknown cause
表4 2例WT1突变患儿临床特点
Table 4 Clinical features of 2 WT1 mutations patients
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