Macroscopic hematuria with normal renal biopsy—following the chain to the diagnosis: Answers

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• 作者：Jeanne Truong ; Georges Deschênes ; Patrice Callard ; Corinne Antignac…
• 关键词：Alport ; COL4A3 ; Electron microscopy ; End ; stage renal disease ; Glomerular basement membrane ; Renal biopsy
• 刊名：Pediatric Nephrology
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：32
• 期：2
• 页码：279-281
• 全文大小：
• 刊物类别：Medicine
• 刊物主题：Pediatrics; Nephrology; Urology;
• 出版者：Springer Berlin Heidelberg
• ISSN：1432-198X
• 卷排序：32

文摘

BackgroundAlport syndrome (AS) is an inherited glomerular disease associated with hearing and eye defects; its morbidity is a public health issue in developed countries. AS results from mutations in COL4A3, COL4A4, or COL4A5 genes, respectively encoding the alpha-3, alpha-4, and alpha-5 chains of type IV collagen, a major component of the renal glomerular basement membrane (GBM). The diagnosis is usually confirmed by a renal biopsy showing a thinning/thickening of the GBM, with a longitudinal splitting of the lamina densa.