ABSTRACT
Introduction: Alport syndrome is considered the second most common cause of monogenic renal failure after autosomal dominant polycystic kidney disease. It is a rare disease and has been found to affect about 1/50,000 to 1-9/100,000 newborns, with men more likely to develop the syndrome than women. It is caused by pathogenic collagen IV mutations in the COL4A3 and COL4A4 genes with autosomal dominant and autosomal recessive transmission or in the COL4A5 gene with X-linked inheritance.
Aim: The aim of this study was to find the newest data on Alport syndrome and the newest treatments for it, through a literaturereview.
Methodology: Α literature search was carried out in electronic sources. Studies were searched in the PubMed database, in English.
Results: Τhe review of the literature showed that the pharmaceutical companies are close enough to find a treatment to delay the onset of symptoms of Alport syndrome, but also to delay the inclusion of those suffering from this syndrome in dialysis.
Conclusions: All indications are that the experimental studies on mouse models in the laboratory are well underway and there is a high probability that these studies will lead to finding a suitable treatment for Alport syndrome. It only remains for these studies to reach phase III and be tested in patients with Alport syndrome with satisfactory results.
Key words: Alport treatment, Type IV collagen, Mutations, Alport syndrome
