In 1927, physician Arthur Cecil Alport unraveled the mysteries of a rare genetic ailment that inflicts significant damage upon the kidneys. His groundbreaking discovery revealed that mutations in specific genes can disrupt type IV collagen, a fundamental component of the kidney’s intricate filtering units known as glomeruli. As these glomeruli become scarred, they allow both blood and protein to pass into the urine. Over time, individuals with Alport syndrome typically experience a decline in kidney function. Given that kidney function diminishes as the condition progresses, chronic kidney disease (CKD) stemming from Alport syndrome may ultimately advance to end-stage renal disease (ESRD). Early detection through tests recommended by your doctor can potentially extend kidney function for those with Alport syndrome.
Alport syndrome primarily manifests within the kidneys, but it can also lead to hearing impairment and visual alterations. If you suspect that you may have inherited Alport syndrome, be vigilant for the following symptoms:
Typically, there are no apparent indicators of Alport syndrome. In most cases, hematuria serves as the initial sign of kidney complications. Since type IV collagen proteins also contribute to the normal functioning of the eyes and inner ears, many individuals with Alport syndrome may encounter vision and hearing impairments.
Alport syndrome symptoms tend to be more severe in males than in females, with faster progression in young males. Women with Alport syndrome typically display no symptoms apart from hematuria. However, in rare instances, female individuals with this condition may experience swelling, hypertension, and nerve deafness as pregnancy complications.
Approximately 80% of young boys with Alport syndrome may experience hearing loss, often occurring during their teenage years and potentially affecting both ears. Young girls with Alport syndrome rarely suffer from hearing loss, although it may develop in adulthood. Roughly 15% of men with Alport syndrome may develop abnormally shaped lenses in the eyes, potentially leading to cataracts.
Diagnosing Alport syndrome may involve a series of tests, including:
Currently, there is no specific treatment for Alport syndrome. If you receive a diagnosis of Alport syndrome, treatment may encompass managing high blood pressure and addressing other kidney disease symptoms. You might be prescribed a kidney-friendly diet that restricts excess sodium, protein, and phosphorus. In cases where Alport syndrome advances to end-stage renal disease, treatment options include dialysis or kidney transplantation.
Researchers are actively investigating Alport syndrome to comprehend its development better. Recent advancements have led to the identification of the gene responsible for this disorder, with the discovery of three gene mutations. These findings have paved the way for potential gene therapy approaches in the future to treat Alport syndrome.
While Alport syndrome remains a rare ailment, it is essential to assess your risk for this genetic disorder. Alport syndrome, an inherited condition, disproportionately affects males. As the condition advances, it gradually diminishes kidney function, ultimately culminating in end-stage renal disease, necessitating dialysis or kidney transplantation. Early detection of Alport syndrome may contribute to the preservation of kidney function. It is advisable to engage in discussions with your doctor regarding your family’s medical history, any prevailing symptoms, and the recommended tests to ascertain the presence of Alport syndrome.
