ArticleClinical kidney journal2014
Genetic testing can resolve diagnostic confusion in Alport syndrome.
Article in Clinical kidney journal, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 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
25 citing papers in PubMed, 38 citations in OpenAlex.
- Mouse model of X-linked Alport syndrome with K229X mutation in the COL4A5 gene.Scientific reports · 2026Article
- Review
- Investigation of current clinical practices and perceptions of patients and caregivers regarding Alport syndrome in South Korea.Kidney research and clinical practice · 2025Article
- A Re-evaluation of Renal Biopsy-based Diagnoses Through a Genetic Analysis in Two Families with Alport Syndrome.Internal medicine (Tokyo, Japan) · 2025Article
- Genes, kidneys, and the future: transforming chronic kidney disease management through genomic insights.Childhood kidney diseases · 2025Review
- Pathological diagnosis of Alport syndrome.Kidney research and clinical practice · 2025Article
- Focal Segmental Glomerulosclerosis Patient Baseline Characteristics in the Sparsentan Phase 3 DUPLEX Study.Kidney international reports · 2024Article
- The Phenotypic Spectrum ofKidney international reports · 2023Article
- Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene.Clinical and experimental nephrology · 2023Article
- Case report: A case report of Alport syndrome caused by a novel mutation ofFrontiers in genetics · 2023Article
- Defining diagnostic trajectories in patients with podocytopathies.Clinical kidney journal · 2022Review
- COL4A4 variant recently identified: lessons learned in variant interpretation-a case report.BMC nephrology · 2022Article
- The KIDNEYCODE Program: Diagnostic Yield and Clinical Features of Individuals with CKD.Kidney360 · 2022Article
- Emerging Role of Clinical Genetics in CKD.Kidney medicine · 2022Review
- Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2022Article
- Novel Therapies for Alport Syndrome.Frontiers in medicine · 2022Review
- Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients.Journal of human genetics · 2021Article
- Look Alike, Sound Alike: Phenocopies in Steroid-Resistant Nephrotic Syndrome.International journal of environmental research and public health · 2020Review
- Clinical Genetic Screening in Adult Patients with Kidney Disease.Clinical journal of the American Society of Nephrology : CJASN · 2020Review
- Kidney Injury by Variants in theInternational journal of molecular sciences · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 6 institutions in 1 country.
Funding
Abstract
Alport syndrome (AS) is a familial glomerular disorder resulting from mutations in the genes encoding several members of the type IV collagen protein family. Despite advances in molecular genetics, renal biopsy remains an important initial diagnostic tool. Histological diagnosis is challenging as features may be non-specific, particularly early in the disease course and in females with X-linked disease. We present three families for whom there was difficulty in correctly diagnosing AS or thin basement membrane nephropathy as a result of misinterpretation of non-specific and incomplete histology. We highlight the importance of electron microscopy and immunofluorescence in improving diagnostic yield and also the hazard of interpreting a descriptive histological term as a diagnostic label. Molecular genetic testing allows a definitive diagnosis to be made in index patients and at-risk family members.
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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.