Infantile nephrotic syndrome: clinical and pathology features, genetic heterogeneity and outcome. A single-center study

Infantile nephrotic syndrome (NS) is a rare, genetically heterogeneous group of glomerulopathies with the onset of the disease at the age of 4-12 months. Aim: to study of clinical and pathological characteristics, genetic features and outcome in children with infantile NS. Materials and methods: we conducted a retrospective one-center follow up study of 8 children (4M/4F) aged 3.2 (IQR: 3.0; 6.1) years with infantile NS. Targeted next-generation sequencing covering 68 genes associated with steroid-resistant NS with confirmation by direct Sanger sequencing were applied. Results: renal biopsy revealed focal-segmental glomerulosclerosis (FSGS) in 7/7 (100%) of the affected children. Monogenic causes of infantile NS were identified in 4/8 (50%) of children. Mutations were found in 4/68 (5.9%) genes, including NPHS2, NPHS1, WT1 and ITGB4. Normal renal functions on the last follow up had 2/8 (25%) children with infantile NS. Conclusion: genetic analyses of infantile NS with next-generation sequencing technique expands diagnostic possibilities with the subsequent personalization of therapeutic approaches.

инфантильный нефротический синдром, дети, гены, мутации, исход, infantile nephrotic syndrome, children, genes, mutations, outcome

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