ArticleCureus2025
Alport Syndrome: A Case of Delayed Diagnosis Through Genetic Testing.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 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.
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
2 citing papers in PubMed.
- Bibliometric analysis of Alport syndrome: genetic foundations, clinical implications, and the transition to precision medicine.International urology and nephrology · 2026Article
- Clinical value of luciferase-based bioluminescence assay in diagnosis of Alport syndrome.Frontiers in pediatrics · 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
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alport syndrome (AS) is a genetic disorder characterized by progressive kidney dysfunction, hearing loss, and ocular abnormalities, with microscopic hematuria often being the initial presenting symptom. Despite being well-recognized among nephrologists, AS has historically been underdiagnosed or misdiagnosed, primarily due to restricted access to genetic testing and its underutilization in clinical practice. The advent of commercial genetic testing has improved diagnostic accuracy. This case report describes a patient with longstanding AS diagnosed late in life through genetic testing.
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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.