@Article{Ogarek2025,
journal="Pediatria Polska - Polish Journal of Paediatrics",
issn="0031-3939",
volume="100",
number="2",
year="2025",
title="Mutation of the NOP10 gene as a cause of steroid-resistant nephrotic syndrome coexisting with cataract, hearing loss, and enterocolitis",
abstract="Nephrotic syndrome comprises a set of symptoms caused by proteinuria exceeding the compensatory capabilities of the body. Based on treatment response, it is classified as either steroid-sensitive or steroid-resistant nephrotic syndrome (SRNS). Steroid resistance is an indication for kidney biopsy and genetic testing. In our case, SRNS in a 6-year-old boy was accompanied by bilateral cataracts, sensorineural hearing loss, and enterocolitis. Genetic testing revealed a previously unreported homozygous mutation in the NOP10 gene. The nucleolar protein NOP10 belongs to a family of ribonucleoproteins that play a crucial role in maintaining proper telomere function and RNA maturation through pseudouridylation. Limited literature reports describe a family with a phenotype similar to that of our patient, in which NOP10 gene mutations led to reduced pseudouridylation and ribosome dysfunction. Considering these findings, it seems likely that defective pseudouridylation represents a novel pathogenic mechanism linking kidney, eye, ear, and intestinal abnormalities in our case.",
author="Ogarek, Iwona
and Szczęsny-Choruz, Elżbieta
and Drożdż, Dorota",
pages="199--202",
doi="10.5114/polp.2025.152552",
url="http://dx.doi.org/10.5114/polp.2025.152552"
}