Genetic basis of steroid-resistant nephrotic syndrome in children and clinical correlates

KHALILOV Mirziyod Kholmurot ugli, KHAMZAEV Komiljon Amirovich, AKHMATALIEVA Mayram

Journal of Biomedicine and Practice – Biomeditsina va amaliyot jurnali · 2026-yil

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.

Maqola ma’lumotlari
MualliflarKHALILOV Mirziyod Kholmurot ugli, KHAMZAEV Komiljon Amirovich, AKHMATALIEVA Mayram
JurnalJournal of Biomedicine and Practice – Biomeditsina va amaliyot jurnali
NashriyotТошкент давлат стоматалогия институти, , «Expert Lawyers» MЧЖ
ISSN2181-9300
Nashr sanasi2026-05-19
Jild11
Son2
TilIngliz
Ilmiy sohaTibbiyot
Indeksga qo‘shilgan2026-08-27

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Kalit so‘zlar

стероид-резистентный нефротический синдром; NGS; COL4A; синдром Альпорта; детская нефрология, steroid-resistant nephrotic syndrome; NGS; COL4A; Alport syndrome; pediatric nephrology, steroidga rezistent nefrotik sindrom; NGS; COL4A; Alport sindromi; pediatrik nefrologiya.

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Iqtibos keltirish

APAKHALILOV Mirziyod Kholmurot ugli, KHAMZAEV Komiljon Amirovich, & AKHMATALIEVA Mayram (2026). GENETIC BASIS OF STEROID-RESISTANT NEPHROTIC SYNDROME IN CHILDREN AND CLINICAL CORRELATES. Journal of Biomedicine and Practice – Biomeditsina va amaliyot jurnali, 11(2). https://tadqiqot.uz/index.php/biomedicine/article/view/13858
GOST (OAK)KHALILOV Mirziyod Kholmurot ugli, KHAMZAEV Komiljon Amirovich, AKHMATALIEVA Mayram GENETIC BASIS OF STEROID-RESISTANT NEPHROTIC SYNDROME IN CHILDREN AND CLINICAL CORRELATES // Journal of Biomedicine and Practice – Biomeditsina va amaliyot jurnali. – 2026. – T. 11, № 2.
MLAKHALILOV Mirziyod Kholmurot ugli, KHAMZAEV Komiljon Amirovich, and AKHMATALIEVA Mayram. “GENETIC BASIS OF STEROID-RESISTANT NEPHROTIC SYNDROME IN CHILDREN AND CLINICAL CORRELATES.” Journal of Biomedicine and Practice – Biomeditsina va amaliyot jurnali, 11(2), 2026. https://tadqiqot.uz/index.php/biomedicine/article/view/13858
ChicagoKHALILOV Mirziyod Kholmurot ugli, KHAMZAEV Komiljon Amirovich, and AKHMATALIEVA Mayram. “GENETIC BASIS OF STEROID-RESISTANT NEPHROTIC SYNDROME IN CHILDREN AND CLINICAL CORRELATES.” Journal of Biomedicine and Practice – Biomeditsina va amaliyot jurnali, 11(2) (2026). https://tadqiqot.uz/index.php/biomedicine/article/view/13858
HarvardKHALILOV Mirziyod Kholmurot ugli, KHAMZAEV Komiljon Amirovich, and AKHMATALIEVA Mayram (2026) ‘GENETIC BASIS OF STEROID-RESISTANT NEPHROTIC SYNDROME IN CHILDREN AND CLINICAL CORRELATES’, Journal of Biomedicine and Practice – Biomeditsina va amaliyot jurnali, 11(2). https://tadqiqot.uz/index.php/biomedicine/article/view/13858
BibTeX
@article{khalilovmirziyodkholmurotugli2026,
  title = {GENETIC BASIS OF STEROID-RESISTANT NEPHROTIC SYNDROME IN CHILDREN AND CLINICAL CORRELATES},
  author = {KHALILOV Mirziyod Kholmurot ugli and KHAMZAEV Komiljon Amirovich and AKHMATALIEVA Mayram},
  journal = {Journal of Biomedicine and Practice – Biomeditsina va amaliyot jurnali},
  year = {2026},
  volume = {11},
  number = {2},
  url = {https://tadqiqot.uz/index.php/biomedicine/article/view/13858}
}

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