ArticleInternal medicine (Tokyo, Japan)2026
Combined Alport Syndrome Type 3A and Mitochondrial Disease Presenting with a Thin Base Membrane and Overt Albuminuria.
Article in Internal medicine (Tokyo, Japan), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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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.
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Who cites it
2 citing papers in PubMed.
- Response to "Autosomal Recessive Alport Syndrome Should Be Diagnosed in an m.3243A>G Carrier Only If a Pathogenic COL4A3 Variant Has Been Detected".Internal medicine (Tokyo, Japan) · 2026Article
- Autosomal Recessive Alport Syndrome Should Be Diagnosed in an m.3243A>G Carrier Only If a Pathogenic COL4A3 Variant Has Been Detected.Internal medicine (Tokyo, Japan) · 2026Article
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10 authors.
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Abstract
Autosomal dominant Alport syndrome (ADAS), which leads to kidney dysfunction, is primarily associated with heterozygous mutations in COL4A3/4. Mitochondrial disease can also lead to kidney dysfunction. We report a rare case of a 29-year-old woman with ADAS and mitochondrial nephropathy, identified through a genetic analysis, revealing a novel in-frame deletion in COL4A3 and a mitochondrial m.3243A>G mutation. Kidney biopsy revealed basement membrane thinning and mitochondrial nephropathy. Treatment with taurine, arginine, and finerenone improved her proteinuria. This case highlights the complexity of diagnosing genetic kidney diseases and underscores the importance of next-generation sequencing in guiding personalized medicine for optimal and precise management.
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