ArticleFrontiers in pediatrics2025
Case Report: Neonatal nephropathy with polycystic appearance in child harboring WT1 variant.
Article in Frontiers in pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Mutations of the Wilms tumor suppressor-1 gene ( Case presentation: A 22-day-old neonate manifested acute anuric renal failure shortly after birth. Renal ultrasound revealed moderately enlarged, bilaterally hyperechoic kidneys (+2.0 to +3.0 SD), the appearance of which resembled that of polycystic kidney disease. The patient showed normal male external genitalia development except for undescended testes. There were no abnormalities in the hepatobiliary duct systems or lungs. The occurrence of the same cystic kidney disorder in the elder sibling born to healthy parents suggests germline mosaicism. He died from multiorgan failure on postnatal day 47. Genetic results: The next-generation sequencing (NGS) screening panel analysis of 4,503 known disease genes revealed a heterozygous pathogenic WT1 p.Arg467Gln variant, which has been reported elsewhere in children formerly categorized under the DDS subtype. The Arg467 residue is the most frequent site of mutations in DDS and is predicted to hinder the binding of the third zinc finger to DNA. Additionally, a heterozygous Conclusion: Our observation highlights two aspects of the WT1 p.Arg467Gln variant in WT1-related nephropathy: (1) The p.Arg467Gln variant causes severe neonatal-onset nephropathy likely through a potent dominant-negative inhibition, and (2) it may manifest a cystic/dysplastic renal phenotype in the presence of coexisting cytogenic modifiers. Future studies are necessary to assess the relevance of the
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