The Necessity of Genetic Testing for Pediatric Steroid-Resistant Nephrotic Syndrome

Abstract

Primary nephrotic syndrome is one of the most common kidney disorders in children
that could result in renal failure, even death. Many studies showed the correlation between gene
polymorphisms and primary nephrotic syndrome. Currently, with rapid innovation of next generation
sequencing, appropriate gene panels were recommended to patients with primary nephrotic syndrome
to achieve the intended clinical benefits of treatment. NPHS1, NPHS2, WT1, LAMB2, PLCE1, LMX1B
genes were known to be closely associated with congenital nephrotic syndrome, while NPHS1,
NPHS2, WT1, LAMB2, PLCE1, TRPC6, ACTN4, ADCK4, COQ2, COQ6 were found related to
pediatric primary nephrotic syndrome. For adult primary nephrotic syndrome, NPHS2, TRPC6, INF2,
ACTN4, ADCK4 and WT1 were proved important. These diagnostic gene panels should be prescribed
for primary nephrotic syndrome patients before immunotherapy treatment, renal biopsy, or kidney
transplantation to achieve the highest treatment efficacy and to limit unexpected harmful side effects.
Keywords

Primary nephrotic syndrome, gene panel, immunotherapy, kidney biopsy, kidney
transplantation

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