According to a story from uhb.nhs.uk, a recent study has drawn a link between chronic kidney disease and Alström syndrome. The research team is associated with the University Hospitals Birmingham NHS Foundation Trust. The study highlights that most patients with the disorder have kidney disease by the time they reach their mid twenties. The scientists looked at medical data from 118 patients with the disorder.
About Alström Syndrome
Alström syndrome is an incredibly rare genetic disorder. There are currently just over 500 cases of the disorder known to science. The disease shares some similarities in presentation to Bardet-Biedl syndrome, but the symptoms tend to appear earlier. Alström syndrome is caused by mutations of the ALMS1 gene. The syndrome causes a variety of symptoms that affect many different systems of the body; these symptoms include childhood obesity, progressive decline in kidney function, heart failure, light sensitivity and vision problems, type 2 diabetes, developmental delays, learning disability, involuntary rapid eye movements, fatty liver, and insulin resistance. This disorder is difficult to detect and diagnosis is often delayed because doctors tend to diagnose the various symptoms as unrelated problems. There is no cure or currently approved therapies the address the underlying mechanism of the disease; treatment is primarily supportive and manages symptoms. To learn more about Alström syndrome, click here.
The findings from the study will help caregivers have a better understanding of the pacing of kidney decline in patients with Alström syndrome. This will allow for more tailored treatments that will allow doctors to help patients manage their kidney-related symptoms more effectively. The study looked at changes in patients’ kidney health over a period of ten years and has helped establish the fact that chronic kidney disease is an inevitable part of the progression of the disorder.
Impact of Data
The data could also be of use in the development of future treatment for Alström syndrome. However, the authors say that more research should be conducted in order to understand why the disease seems to affect the kidneys so severely.
Less than 200 people in the UK are affected by this syndrome. However, the small community of patients in the country are supported by the nonprofit Alström Syndrome UK. Learn more about the organization’s activities here.