Diagnostic tests for Alport syndrome / 中华检验医学杂志

ABSTRACT

Alport syndrome, characterized by hematuria, renal failure, sensorineural deafness, and ocular abnormalities, is an inherited glomerular disease caused by mutations in the COL4A5 (X-linked), or COL4A3 and COL4A4 (autosomal recessive) genes.The ultrastructural changes of Alport syndrome can be observed in the electron microscopic analysis of renal biopsies, which are characterized by irregular thinning/thickening, layering and splitting dense layer of the glomerular basement membrane.In the basement membrane of skin and renal biopsy tissue, type IV collagen α chain immunofluorescence test can be used to diagnose Alport syndrome, screen the carriers and determine the mode of inheritance.The analysis and detection of Alport syndrome gene are not only useful for genetic counseling, but also useful for identification of gene carriers, prenatal diagnosis, and identification of suspected patients who can not be confirmed by clinical and pathological examination results.