Abstract

LOZA, Reyner et al. Frequency of mutations found in children with chronic kidney disease due to steroid-resistant nephrotic syndrome. Rev Med Hered [online]. 2023, vol.34, n.4, pp.189-192.  Epub Dec 20, 2023. ISSN 1018-130X.  http://dx.doi.org/10.20453/rmh.v34i4.5141.

Chronic kidney disease in children may be caused by a group of genetic abnormalities of the kidney, urinary tract and hereditary nephropathies. Objective: To report the frequency of mutations in children with steroid-resistant nephrotic syndrome (SRNS). Methods: A multicentric case series among children with SRNS identified through direct sequencing of NPHS1, NPHS2, NPHP1 and WT1 genes. Results: 33 children were enrolled; 45.5% were females; mean age was 13±7 years; 78.8% were mestizo: 24.2% consanguineous; 60.6% were receiving dialysis: 72.7% had SRNS and 8/24 (33.3%) of them presented at least one mutation to WT1, NPHS1, NPHP1 and NPHS2 genes. Corresponding values for these mutations were 37.5% (3/8), 25% (2/8), 25% (2/8) and 12.5% (1/8), respectively. Conclusions: 33% of pediatric patients with SRNS presented gene mutations, the most frequent of these mutations was WT1.

Keywords : Steroid-Resistant Nephrotic Syndrome; Mutation; Genetics; Children.

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