Alport Syndrome: A Hereditary Disorder

Abstract

Alport syndrome, also known as hereditary nephritis, is a rare genetic disorder that primarily affects the kidneys and can also involve the ears and eyes. It is caused by mutations in genes encoding for type IV collagen which are responsible for the production of certain proteins in the basement membrane of the kidneys. The mutation results in abnormal structure and function of the kidneys. Individuals may develop end-stage renal disease as the disease progresses, requiring dialysis or kidney transplantation for survival. It typically affects males more severely than females. As per reviews from several studies, there is currently no definite cure for Alport syndrome; the treatment is mostly based on managing the symptoms and slowing down the disease progression. Hence, patients with Alport syndrome must be educated and made aware enough to combat their condition and avoid life-threatening complicationsthat can potentially happen if proper measures are not taken. Meanwhile, genetic counseling and testing should also be given much importance as it helpindividuals with Alport syndrome or those at risk of carrying the gene mutation to determine the likelihood of passing the condition to future generations and provide information for family planning decisions.