ArticleOrphanet journal of rare diseases2012
Challenge in pathologic diagnosis of Alport syndrome: evidence from correction of previous misdiagnosis.
Article in Orphanet journal of rare diseases, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 33 citations in OpenAlex.
- Investigation of clinical and genetic characteristics of Alport syndrome using a national registry in Japan (JP-ALPS).Clinical and experimental nephrology · 2026Article
- Cracking the code: an integrated electronic medical record approach to early diagnosis of genetic kidney disease in children with microscopic haematuria.Pediatric nephrology (Berlin, Germany) · 2025Article
- A comprehensive review of Alport syndrome: definition, pathophysiology, clinical manifestations, and diagnostic considerations.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
- Renal Phenotype Variations among Families with Autosomal Alport Syndrome: Potential Role of Modifier Genes.Kidney360 · 2025Article
- Identification of novel COL4A5 variants and prenatal diagnosis in three large families.Scientific reports · 2025Article
- Clinicopathological Features of Hereditary Nephritis in the Iranian Population: Analysis of a 14-Year Survey in Kidney Biopsies From a Large Referral Center.Archives of Iranian medicine · 2024Article
- 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
- A pedigree withAmerican journal of translational research · 2022Article
- Utility of glomerular Gd-IgA1 staining for indistinguishable cases of IgA nephropathy or Alport syndrome.Clinical and experimental nephrology · 2021Article
- A child with familial glomerulonephritis: Answers.Pediatric nephrology (Berlin, Germany) · 2020Article
- How to resolve confusion in the clinical setting for the diagnosis of heterozygous COL4A3 or COL4A4 gene variants? Discussion and suggestions from nephrologists.Clinical and experimental nephrology · 2020Review
- Variations of type IV collagen-encoding genes in patients with histological diagnosis of focal segmental glomerulosclerosis.Pediatric nephrology (Berlin, Germany) · 2020Review
- Features of Autosomal Recessive Alport Syndrome: A Systematic Review.Journal of clinical medicine · 2019Article
- Diagnostic Yield of Next-Generation Sequencing in Patients With Chronic Kidney Disease of Unknown Etiology.Frontiers in genetics · 2019Review
- The expanding phenotypic spectra of kidney diseases: insights from genetic studies.Nature reviews. Nephrology · 2016Review
- Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease.BMC nephrology · 2014Article
- Genetic testing can resolve diagnostic confusion in Alport syndrome.Clinical kidney journal · 2014Article
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPathologic studies play an important role in evaluating patients with Alport syndrome besides genotyping. Difficulties still exist in diagnosing Alport syndrome (AS), and misdiagnosis is a not-so-rare event, even in adult patient evaluated with renal biopsy.
methodsWe used nested case-control study to investigate 52 patients previously misdiagnosed and 52 patients initially diagnosed in the China Alport Syndrome Treatments and Outcomes Registry e-system.
resultsWe found mesangial proliferative glomerulonephritis (MsPGN, 26.9%) and focal and segmental glomerulosclerosis (FSGS, 19.2%) were the most common misdiagnosis. FSGS was the most frequent misdiagnosis in female X-linked AS (fXLAS) patients (34.8%), and MsPGN in male X-linked AS (mXLAS) patients (41.2%). Previous misdiagnosed mXLAS patients (13/17, 76.5%) and autosomal recessive AS (ARAS) patients (8/12, 66.7%) were corrected after a second renal biopsy. While misdiagnosed fXLAS patients (18/23, 78.3%) were corrected after a family member diagnosed (34.8%) or after rechecking electronic microscopy and/or collagen-IV alpha-chains immunofluresence study (COL-IF) (43.5%) during follow-up. With COL-IF as an additional criterion for AS diagnosis, we found that patients with less than 3 criteria reached have increased risk of misdiagnosis (3.29-fold for all misdiagnosed AS patients and 3.90-fold for fXLAS patients).
conclusionWe emphasize timely and careful study of electronic microscopy and COL-IF in pathologic evaluation of AS patients. With renal and/or skin COL-IF as additional criterion, 3 diagnosis criteria reached are the cutoff for diagnosing AS pathologically.
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