Background: Focal segmental glomerulosclerosis (FSGS) is a significant cause of end-stage renal disease. It is generally considered to be sporadic but familial cases have been reported in varied ethnic groups. Genetic mutations implicated in familial FSGS involving NPHS1, NPHS2, WTI and APOL1 have not been studied in African children living outside America. This is the first report of familial FSGS and genetic study from children living in Africa.
Case report: We reported two siblings; a 4-year old male and a 15-year old female from a non-consanguineous family with renal biopsy-confirmed FSGS who presented with Nephrotic syndrome (NS). The male was steroid dependent NS and achieved long term remission after two courses of oral cyclophosphamide, while the elder sister is steroid resistant and has not achieved remission with cyclosporine. We performed mutational analysis on the family by sequencing both strands of all exons of NPHS2, WT1 and APOL1 using exon flanking primers. There was absence of common gene mutations in NPHS2, WT1 and APOL1 gene in any of the two children.
Conclusion: We present for the first time mutational analysis of NPHS2, WT1 and APOL1 in a sibling with familial FSGS from Nigeria. There may be different and unidentified gene mutations responsible for FSGS in indigenous African children.