Researchers at Kobe University in Japan conducted a study to find the best method to diagnose patients with Alport syndrome. The study involved patients aged 18 or younger who had been diagnosed with Alport syndrome, to understand how they were first diagnosed.

According to Medical Xpress, Japan performs comprehensive urine tests at age three, but large-scale studies to evaluate its effectiveness in detecting Alport syndrome in children have not been conducted.

Alport syndrome is a genetic disorder affecting approximately 1 in every 5,000 people. Patients are unable to produce a specific type of collagen, leading to kidney failure and potentially hearing loss and eye abnormalities.

Medications are available to delay the onset of kidney failure, after which patients require kidney transplantation or dialysis. Although treatment is more effective when diagnosed early, many patients remain unaware of the condition until kidney function deteriorates.

The most common initial diagnosis of Alport syndrome in Japan occurs during the comprehensive urine test for children at age three. In 60% of these children, the disease has progressed enough to qualify for treatment. Therefore, early urine testing may be a suitable method to improve diagnosis and reduce healthcare costs.

According to a study published in Kidney International Reports, researchers found that over 30% of patients, or 113 out of 356, were referred to hospitals for Alport syndrome testing due to urine test results at age three, making it the most common reason for referral. Additionally, 60% of these individuals met treatment criteria.

The study explained that a significantly high percentage of three-year-old children with Alport syndrome required therapeutic intervention even without symptoms, suggesting that implementing urine screening could allow intervention before kidney function impairment occurs.

The team estimates that about 23 million Japanese children underwent screening during the period qualifying for the study. Currently, the exact percentage of those correctly diagnosed with the condition is unknown.