When organizations partner together to work towards improving patient outcomes, it can also help to increase the understanding and spur research of certain conditions. According to Healio, a recent partnership formed between the National Kidney Foundation (NKF) and the Alport Syndrome Foundation. Through this new partnership, the team hopes to develop and share research opportunities for those with Alport syndrome through the NKF Patient Network.
NKF Patient Network
The NKF explains that the NKF Patient Network is the first nationwide registry to involve patients with kidney disease (at any stage) in changing the future of kidney research and care. In addition to gaining a community, the NKF Patient Network allows patients to enter their own health data, participate in research, and discover individualized tips or education around kidney disease.
Through this particular partnership, the NKF and Alport Syndrome Foundation hope to gain a better understanding of Alport syndrome through patient-centered responses. Additionally, this information could help connect patients with clinical trials or even, in the future, find new and effective treatment options.
COL4A3, COL4A4, and COL4A5 gene mutations cause Alport syndrome, a rare disorder characterized by progressively worsening kidney function. Normally, these genes encode for the production of type IV collagen. Type IV collagen helps promote kidney function, allows glomeruli to filter waste from the blood, and maintains structure in the ears and eyes. However, patients with this condition have abnormal type IV collagen. As a result, the glomeruli are unable to effectively filter out waste, causing scarring and eventually kidney failure. Additionally, the abnormalities cause ear and eye manifestations associated with this condition.
Because of the way that a majority of cases are inherited, this disorder tends to affect males more than females. Symptoms include:
- Proteinuria (high levels of protein in the urine)
- Hematuria (blood in the urine)
- Abnormal retinal coloration
- Misshapen lenses
- Sensorineural hearing loss
- High blood pressure
- Abnormal inner ear structures
- Swelling of the lower extremities or around the eyes
Learn more about Alport syndrome here.