ReviewBMC nephrology2018
New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature.
Review in BMC nephrology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
9 citing papers in PubMed, 10 citations in OpenAlex.
- Novel PAX2 variants and phenotypic heterogeneity in pediatric kidney disease: a single-center retrospective study.Pediatric nephrology (Berlin, Germany) · 2026Article
- A Novel Synonymous Variant of PAX2 in Monochorionic Diamniotic Twins With Bilateral Renal Agenesis: A Case Report and Literature Review.Molecular genetics & genomic medicine · 2025Review
- Clinical Characteristics and Genetic Variants in Children withMedicina (Kaunas, Lithuania) · 2025Article
- Variable Phenotypic Expression ofMedicina (Kaunas, Lithuania) · 2025Article
- Frameshift Mutation in PAX2 Related to Focal Segmental Glomerular Sclerosis: A Case Report and Literature Review.Molecular genetics & genomic medicine · 2024Review
- Review
- Detection ofFrontiers in genetics · 2022Article
- A novelAmerican journal of ophthalmology case reports · 2021Article
- Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWe herein report a 3-year-old boy presented with chronic kidney disease (CKD) due to PAX2 missense mutation (C to G transversion at position 418 in exon 4). CASE PRESENTATION: He attended our clinic with a 3-month history of foamy urine. Upon examination, he had reduced estimated glomerular filtration rate (GFR) and renal atrophy. Genetic investigations revealed that he has inherited a mutated PAX2 gene from his father, who had renal failure at the age of 20. We searched the literature and confirmed that this mutation site has not been reported by any other group before.
conclusionsAlthough renal coloboma syndrome (RCS) with simultaneous kidney and eye involvement is the most common phenotype of PAX2 mutations, current literature supports that such mutations may have profuse clinical manifestations and renal hypoplasia is one distinct entity in the spectrum.
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Registered trials
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