Progress of precise diagnosis and treatment for Alport syndrome

Alport syndrome is caused by mutations in the COL4A3, COL4A4, and COL4A5 genes encoding the α3, α4, and α5 chains of collagen type Ⅳ, respectively, and is clinically characterized by hematuria, proteinuria, and progressive renal failure, with deafness and ocular lesions in some patients. With new improvement in medical technology, the diagnosis of Alport syndrome has been more and more exact, which was based from initial clinical manifestation to typical ultrastructural pathological changes of GBM, and to currently-widely-used mutations detection. At present, Alport syndrome is considered to be a treatable disease, and early use of angiotensin-converting enzyme (ACE) inhibition and angiotensin receptor blockade (ARB) may delay the onset of renal failure in Alport syndrome patients. Key words: Alport syndrome; Rrenal failure; Diagnosis; Treatment