Kidney Cysts in Children With Alport Syndrome: A Report of 3 Cases
Alport syndrome (AS) is a progressive hereditary kidney disease characterized by hematuria, proteinuria, and progressive kidney dysfunction accompanied by sensorineural hearing loss and ocular abnormalities.
Yeun-Wen Chang +5 more
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Considering Heterozygous Variants in COL4A3, COL4A4, COL4A5: Genetic Features and Clinical Outcomes. [PDF]
Besse W, Ma D.
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Autosomal Dominant Alport Syndrome. [PDF]
Savige J, Huang M.
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Pathogenic variants in COL4A3, COL4A4, JAG1, and NPHS2 genes in focal segmental glomerulosclerosis: Insights from targeted gene panel sequencing. [PDF]
Ahmed LI, Mohammed DA, Sharif DA.
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Sodium-Glucose Cotransporter 2 Inhibitors in Alport Syndrome: Emerging Clinical Evidence and Mechanistic Insights. [PDF]
Miyata KN, Miner JH.
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Kidney Transcriptome Sequencing Improves Molecular Diagnosis and Reveals Splicing Complexity Across the Alport Spectrum. [PDF]
Pleško J +9 more
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<i>LAMA5</i> pathogenic variant uncovers a novel autoantigen in membranous nephropathy. [PDF]
Xiao H +11 more
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A Novel Homozygous <i>COL4A3</i> c.1873G>A (p.Gly625Ser) Variant Presenting With Autosomal Recessive Alport Syndrome: Clinical, Genetic, and Segregation Evidence. [PDF]
Ural Z, Derici Ü.
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Estrogen protects female mice with chronic kidney disease from fibroblast growth factor 23-induced left ventricular hypertrophy. [PDF]
Kentrup D +12 more
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Autosomal Type IV Collagen Genes Display Sex Differences in Genetic Risk for Hematuria. [PDF]
Lona-Durazo F +9 more
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