Alport Syndrome: An Overview of the Pathology

Abstract

Alport syndrome (AS), also known as hereditary nephrosis, is an X-linked genetic disease that predominantly affects type IV collagen mainly in the kidneys and the eyes. It primarily affects males, particularly children, and can be transmitted via autosomal dominant and recessive inheritance modes. It typically presents with a triad of kidney involvement (nephritis), sensorineural hearing loss (SNHL), and visual impairment. Diseases related to mutation of the gene of the X chromosome include leiomyomatosis and AMME complex. AMME Complex is an acronym for alport syndrome, Midface hypoplasia, Mental retardation, and Elliptocytosis. All type IV collagen genes must undergo mutation for the disease to occur. The most commonly implicated genes are COL4A3, COL4A4, and rarely COL4A5. It is one of the three prevalent inherited kidney diseases. In addition to others like polycystic kidney disease, cystinosis, Lowe syndrome, hereditary interstitial kidney disease, fabry disease, gittleman & barter's syndrome, and nephronophthisis.AS is considered a congenital disease. The disease has no cure. Therapeutic strategies involve combating the symptoms and complications associated with the disease. The era of 21st-century technological evolution has clarified the diagnosis and evaluation of AS, but more studies are essential to help further understand the disease spectrum. This review article highlights the salient learning objectives to foster a better understanding of Alport syndrome for basic medical students and health professionals.