ArticleThe Journal of international medical research2020
IgA nephropathy suspected to be combined with Fabry disease or Alport syndrome: a case report.
Article in The Journal of international medical research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 7 citations in OpenAlex.
- Coexistence of Alport Syndrome and Fabry Disease in a Female with R112H Variant: Early Progression of Fabry Nephropathy.International journal of molecular sciences · 2025Article
- The importance of a multidisciplinary approach in two tricky cases: the perfect match for Fabry disease.BMC nephrology · 2025Article
- Case Report: Fabry disease overlapping with systemic lupus erythematosus in a pediatric patient.Frontiers in immunology · 2025Article
- Whole-exome sequencing in pediatric patients with glomerulonephritis.Frontiers in genetics · 2025Article
- Diagnosing Fabry nephropathy: the challenge of multiple kidney disease.BMC nephrology · 2023Review
- Alport syndrome misdiagnosed with IgA nephropathy from familial history: a case report and brief review.BMC nephrology · 2023Review
- Alport syndrome combined with lupus nephritis in a Chinese family: A case report.World journal of clinical cases · 2021Article
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5 authors at 1 institution in 1 country.
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Abstract
Immunoglobulin A (IgA) nephropathy is the most common glomerular disease, and it often manifests as persistent microscopic hematuria or gross hematuria. Fabry disease and Alport syndrome are hereditary diseases caused by mutation of genes, and these diseases are rare in China. At present, patients can be diagnosed with IgA nephropathy by clinical manifestations and laboratory examinations, but there is still controversy about the simultaneous diagnosis of Alport syndrome and Fabry disease in patients with IgA nephropathy. The present case was a 17-year-old girl with hematuria and proteinuria who underwent a renal biopsy. Light microscopy and immunofluorescence showed that IgA was deposited in the mesangium. Under electron microscopy, zebra bodies with a lamellated structure were detected. A gene test showed a COL4A3 gene mutation. The patient was administered prednisone 40 mg once a day and dispersible tablets of mycophenolate mofetil 0.75 g two times a day. The patient's condition showed a trend of remission. The findings in our case emphasize the importance of renal biopsy and gene detection in hereditary kidney disease, especially for Fabry disease and its rare coexistence with Alport syndrome.
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