Research paper boosts understanding of rare disease

A team of researchers at University Hospitals Birmingham NHS Foundation Trust, alongside national and international collaborators, have published one of the first papers focusing on how a rare disorder affects the kidneys.

Alström Syndrome is an extremely rare genetic condition, with less than 200 people in the UK thought to have the condition.

The paper, “Defining renal phenotype in Alström syndrome”, which reviewed data from 118 people globally with Alström Syndrome, found a strong link between Alström Syndrome and kidney disease, with most people with the condition having chronic kidney disease by their mid-twenties.

The ten year study, co-funded by the researchers and a Science Lottery grant, collected data from UHB patients and an international registry and will help clinicians optimise treatments to address kidney problems people with Alström Syndrome may have.

Dr Tarekegn Hiwot, UHB Consultant in Inherited Metabolic Disorders, said: “The findings of this research suggest that accelerated kidney disease is part and parcel of Alstrom Syndrome. This is something that was not known before.”

“The results may lead to potential treatment options for those with Alström Syndrome, though further research may be needed to explain why the kidney is affected so significantly.

“Whilst currently there is no Alström Syndrome specific treatment, one clinical trial is underway here at UHB, which could help with scarring in those with the condition.”

A specialist team at UHB, led by Dr Hiwot, provides the only adult Alström Syndrome service in the country and one of the largest in the world.

The inherited metabolic disorders team, based in the Heritage Building on the Queen Elizabeth Hospital Birmingham site, see patients with a range of inherited disorders, and are involved in several clinical trials for a variety of diseases which may lead to improved treatments.

Symptoms of Alstrom Syndrome include wobbly eyes, sensitivity to light, obesity and hearing loss. Families affected by Alström Syndrome are also supported by Alstrom Syndrome UK, a national charity that provides advice about the condition.