ArticleFrontiers in pediatrics2022
Two Children With Steroid-Resistant Significant Proteinuria Due to Nonsense Mutations of the
Article in Frontiers in pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 8 citations in OpenAlex.
- A Rare De Novo Mutation in theInternational journal of molecular sciences · 2024Article
- Variants loci and phenotype correlation ofFrontiers in neurology · 2024Article
- Focal segmental glomerulosclerosis and neurogenic bladder in a Chinese patient with a novelSAGE open medical case reports · 2024Article
- De novo truncating variants of TRIM8 and atypical neuro-renal syndrome: a case report and literature review.Italian journal of pediatrics · 2023Review
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Case Presentation: Case 1 was a 7-year-old girl who presented with proteinuria and developmental delay, and her renal biopsy showed FSGS. She developed end-stage renal disease (ESRD) 3 years after onset. Case 2 was another 7-year-old girl who developed proteinuria only at age 3, and renal biopsy showed glomerular segmental mesangial proliferative lesions. The two girls underwent genetic testing but we did not find a positive result in the whole exon. However, cluster analysis revealed two new nonsense mutations of the Conclusions: We reported the clinical manifestation of this neuro-renal syndrome for the first time in China. It is necessary to perform genetic testing in children with steroid-resistant significant proteinuria to identify its etiology and avoid the side effects of immunosuppressants.
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