Journal of Biomedicine and Practice – Biomeditsina va amaliyot jurnali 11-jild 2-son (2026)
GENETIC BASIS OF STEROID-RESISTANT NEPHROTIC SYNDROME IN CHILDREN AND CLINICAL CORRELATES
ХАЛИЛОВ Мирзиёд Холмурот угли, ХАМЗАЕВ Комилжон Амирович, АХМАТАЛИЕВА Майрам
Annotatsiya
Introduction. Steroid-resistant nephrotic syndrome (SRNS) carries a high risk of progression to end-stage renal disease. Next-generation sequencing (NGS) has shown that a significant proportion of pediatric cases have a monogenic cause, with direct implications for therapy and prognosis. Aim. To characterize the mutational spectrum of pediatric SRNS and congenital nephrotic syndrome (CNS) in a National children’s medical center cohort and examine genotype–phenotype associations. Methods. 54 pediatric patients with confirmed SRNS or CNS underwent targeted NGS panel testing. Associations were assessed using Mann-Whitney U, chi-square, and Fisher’s exact tests. Results. A total of 54 pediatric patients with genetically confirmed SRNS or CNS were included to the study. 34 distinct genetic entities were identified. COL4A-family mutations (COL4A3/4/5) were the most prevalent category (27.8%), with COL4A5 being the single most common gene (14.8%) and showing significant male predominance (M:F = 7:1; OR = 4.32, p = 0.038). CNS patients were significantly younger than SRNS patients (p = 0.022). COQ2 mutations accounted for 5.6%, all presenting as CNS. Digenic mutations were found in 20.4% of patients. Conclusion. COL4A mutations dominate pediatric SRNS genetics, contrasting with NPHS2 predominance in Western cohorts. Comprehensive genetic panel testing should be standard of care in all pediatric SRNS patients.
стероид-резистентный нефротический синдром; NGS; COL4A; синдром Альпорта; детская нефрологияsteroid-resistant nephrotic syndrome; NGS; COL4A; Alport syndrome; pediatric nephrologysteroidga rezistent nefrotik sindrom; NGS; COL4A; Alport sindromi; pediatrik nefrologiya.
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