Alport Syndrome in the Singapore Population: An Under-Recognised Kidney Disease?
20 April 2025
Main Applicant – Dr Ng Kar Hui, Associate Professor, National University of Singapore (NUS)
About 9% of people with kidney failure have genetic kidney disease. Of those with genetic kidney disease, 30% of them are due to Alport syndrome. Alport syndrome is reported to affect 1 in 106 individuals in the world population.
While Alport syndrome is reported to cause kidney failure in 30% by 60 years old amongst patient groups, it is unclear if this can be applied to any person who has the Alport mutations. Genetic testing is not widely implemented in Singapore. It is likely Alport syndrome is underdiagnosed in Singapore. The earliest stages of Alport syndrome are asymptomatic and yet, early diagnosis via genetic testing, and early treatment with a readily available drug can delay kidney failure by two decades or more. The economical burden of the un-diagnosed Alport syndrome is unknown.
We seek to determine
– How common Alport syndrome is in Singapore
– The disease course of individuals with the Alport mutations
– Health economic burden related to the lost opportunities in early genetic diagnosis and treatment.
This research will also provide the evidence to guide who will benefit most from genetic testing for Alport syndrome, and guide policymakers on the clinical implementation of genetic testing among kidney patients in Singapore.