Alport refers to a hereditary disorder that affects the kidneys and often leads to progressive kidney damage. It is a rare genetic condition characterized by defective collagen production, specifically affecting the type IV collagen found in the kidneys, ears, and eyes. This condition is named after Arthur Cecil Alport, the physician who first described it in 1927.
The primary symptoms of Alport syndrome include blood in the urine (hematuria), proteinuria, and eventually kidney dysfunction. Hematuria, usually the first sign, can be spotted with the naked eye or determined through laboratory tests. Proteinuria refers to the presence of abnormal levels of protein in the urine.
Over time, individuals with Alport syndrome may develop chronic kidney disease and may even require dialysis or a kidney transplant. In some cases, the disorder can cause hearing impairment or vision problems, although these manifestations tend to vary in severity.
Alport syndrome can be inherited in different patterns depending on the specific genetic mutation involved. Most forms are inherited in an X-linked pattern, passing from carriers (usually males) to their daughters. However, other, less common inheritance patterns include autosomal recessive and autosomal dominant.
Different diagnostic methods are available to confirm the presence of Alport syndrome, including kidney biopsies and genetic testing. Treatment mainly focuses on managing symptoms, slowing down the progression of kidney damage, and preventing complications. This can involve medication, blood pressure control, and eventually, renal replacement therapy if necessary. Genetic counseling is highly recommended for families affected by Alport syndrome to understand the risks of transmission and explore family planning options.
