Causes Analysis of 36 Children With Focal Segmental Glomerulosclerosis

Abstract

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, PLCe1, 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. Key words: focal segmental glomerulosclerosis; cause; child; WT1; low birth weight infants