Alport Syndrome: to Biopsy the Kidney or Not to Biopsy the Kidney?

Genetic disorders often lead to a significant reduction in quality of life. For many adults with genetic disorders, the key to managing the life long health complications lies in the early diagnosis and treatment, often in early childhood. For some individuals, especially those with Alport syndrome, there is a significant need to diagnose this genetic complication early so as to prevent long term complications arising out of secondary kidney failure.

If you believe you may be genetically at-risk for Alport syndrome, it is important to ask your physician about the necessary testing to rule out, or confirm, the health complication. For many patients, the complication is diagnosed through use of biopsy which requires an outpatient surgical procedure. In more advanced forms of healthcare today, a biopsy to diagnose Alport syndrome may not be necessary. Using clinical findings, and testing for hematuria, many adults with genetically based Alport syndrome can confirm the diagnosis without the need for biopsy.

Clinical findings of Alport syndrome are usually associated with the development of not only hematuria but also a sudden and progressive loss of hearing that is sensorineural in nature. In addition, if you are at-risk for Alport syndrome, you may begin to notice complications associated with ocular changes as well. Once these health complications arise, and if you have a familial history of Alport syndrome, further investigation into the diagnosis of the genetic disorder may be warranted.

While there is no cure for Alport syndrome, an early diagnosis can provide excellent health options so as to prevent lifelong kidney complications and the early development of end-stage renal disease, ESRD. While ESRD is often the final health complication for adults with Alport syndrome, it can be deferred for many years if this genetic condition is diagnosed early in life.