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

doi:10.1007/s00467-015-3268-2

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Article

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

Pediatric nephrology (Berlin, Germany) - 1 Feb 2017

Truong Jeanne, Deschênes Georges, Callard Patrice, Antignac Corinne, Niel Olivier

Abstract excerpt

BACKGROUND: Alport 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...

Topics

Child
Diagnosis, Differential
Fluorescent Antibody Technique
Genetic Testing
Hematuria
Humans
Kidney
Kidney Failure, Chronic
Kidney Glomerulus
Male
Microscopy, Electron
Mutation
Nephritis, Hereditary

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Open in PubMed

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PMID: 26628280
DOI: 10.1007/s00467-015-3268-2

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