The authors of a new study suggest that all children with steroid-resistant nephrotic syndrome should be screened for mutations in the WT1 gene. Lipska and colleagues found that among 761 patients with this disease, those with mutations in WT1 (n = 61) more often presented with hypertension and chronic kidney disease at diagnosis and showed faster disease progression. Missense substitutions in WT1 that affected DNA-binding residues were associated with diffuse mesangial sclerosis and early onset of steroid-resistant nephrotic syndrome with rapid progression to end-stage renal disease (ESRD). By contrast, truncating mutations in WT1 were associated with late onset of steroid-resistant nephrotic syndrome and the highest risk of Wilms tumour, whereas intronic mutations were most likely to cause isolated steroid-resistant nephrotic syndrome, focal segmental glomerulosclerosis and slow progression to ESRD.
References
Lipska, B. S. et al. Genotype–phenotype associations in WT1 glomerulopathy. Kidney Int. 10.1038/ki.2013.519
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Genotypes and phenotypes in WT1-associated nephropathy. Nat Rev Nephrol 10, 126 (2014). https://doi.org/10.1038/nrneph.2014.13
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DOI: https://doi.org/10.1038/nrneph.2014.13