ArticleClinical case reports2026
Expanded Phenotype of PAX2-Related Papillorenal Syndrome: A Case Featuring FSGS, Atypical Retinopathy, Cerebellar Hypoplasia, and ADHD.
Article in Clinical case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed.
- Expanded Phenotype of PAX2-Related Papillorenal Syndrome: A Case Featuring FSGS, Atypical Retinopathy, Cerebellar Hypoplasia, and ADHD.Clinical case reports · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Papillorenal syndrome (PAPRS), or renal coloboma syndrome, is a rare autosomal dominant disorder caused by PAX2 mutations. It classically manifests with renal hypodysplasia and optic nerve anomalies. However, recent literature suggests an expanding phenotypic spectrum. We report a 7-year-8-month-old boy born to consanguineous parents, presenting with stage 4 chronic kidney disease (CKD), nephrotic-range proteinuria, visual impairment, and ADHD. Renal biopsy revealed focal segmental glomerulosclerosis (FSGS), and ocular examination showed bilateral peripheral scalloped chorioretinal atrophy without optic nerve colobomas. Genetic testing confirmed a pathogenic heterozygous
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.