ArticlePediatric nephrology (Berlin, Germany)2012
Alport-like glomerular basement membrane changes with renal-coloboma syndrome.
Article in Pediatric nephrology (Berlin, Germany), 2012. 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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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
4 citing papers in PubMed, 8 citations in OpenAlex.
- Variable Phenotypic Expression ofMedicina (Kaunas, Lithuania) · 2025Article
- Familial focal segmental glomerulosclerosis with Alport-like glomerular basement changes caused by paired box protein 2 gene variant.CEN case reports · 2024Article
- Focal segmental glomerulosclerosis and proteinuria associated with Myo1E mutations: novel variants and histological phenotype analysis.Pediatric nephrology (Berlin, Germany) · 2023Article
- Clinical and genetic variability of PAX2-related disorder in the Japanese population.Journal of human genetics · 2020Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAutosomal dominant mutations in paired box gene 2 (PAX2), on chromosome 10q24, are responsible for renal coloboma syndrome (RCS). The role of PAX2 in glomerular basement membrane (GBM) formation and maintenance remains unknown. CASE-DIAGNOSIS: We report a case of a 13-year-old Japanese girl who had both optic disk coloboma and renal insufficiency. Her father and sister also had both coloboma and renal dysfunction. Renal pathological findings revealed a basket-weave pattern of the GBM, which was compatible with Alport syndrome, but type IV collagen α5 staining was normal. The patient's findings of coloboma and renal dysfunction suggested that she had RCS, and genetic analysis revealed a PAX2 heterozygous mutation in exon 2 (c.76dup, p.Val26Glyfsx27) without any mutations of COL4A3, COL4A4, and COL4A5, which are responsible for autosomal and X-linked Alport syndrome.
conclusionsPAX2 mutations may result in abnormal GBM structure.
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