“If Hematuria Persists and There Is a Family History, Check for Inherited Kidney Disease”—It Could Be Alport Syndrome [Health Check]

[Financial News] An analysis has found that the actual number of people with Alport syndrome, an inherited kidney disease, could be at least 30 times the officially registered figure. Because its symptoms resemble those of other kidney diseases, many patients are believed to remain undiagnosed.
A research team led by Professors Park Pyeong-gang and Lee Geum-hwa of the Division of Pediatric Nephrology at Severance Children's Hospital said on the 12th that it had analyzed National Health Insurance data to examine the prevalence of Alport syndrome in South Korea and treatment patterns before and after diagnosis. The findings were published in Kidney Research and Clinical Practice (JIF 3.5), the official journal of the Korean Society of Nephrology.
Alport syndrome is an inherited kidney disease caused by mutations in type IV collagen genes. It begins with hematuria and progresses to proteinuria and declining kidney function, and can lead to end-stage renal disease at a relatively young age. It can also be accompanied by hearing loss or vision problems.
The condition was once thought to affect one in every 50,000 people, but recent genomic studies estimate that high-risk Alport syndrome affects about one in every 2,500. This is about 20 times the previous estimate. However, because its early symptoms resemble those of other kidney diseases, many cases go undiagnosed or are mistaken for immune-mediated glomerulonephritis.
The research team identified patients with Alport syndrome registered under the special coverage program for rare diseases in claims data from the Health Insurance Review and Assessment Service for 2014–2023, and analyzed annual prevalence rates and drug prescriptions during the three years before and after diagnosis.
The results showed that, as of 2023, about 800 patients were officially registered in South Korea. By contrast, genomic data suggested that about 26,000 people carried the relevant genetic variants, including about 8,800 who were at high risk of progressing to severe disease. The number of registered patients was therefore only about one-thirty-second of the estimated number of patients.
Before diagnosis, about 30% of patients had been classified as having other forms of immune-mediated glomerulonephritis, and as a result had not received appropriate treatment for Alport syndrome in a timely manner.
Professor Park Pyeong-gang said, “Alport syndrome is more common than people realize, but many patients still remain undiagnosed. If you have persistent hematuria or proteinuria and a family member with kidney disease or hearing loss, you should check whether it could be an inherited kidney disease.”
Professor Lee Geum-hwa emphasized, “If a child or adolescent is found to have an abnormality in a school urine test and has a family history of kidney disease or abnormal urine tests, it is important to seek care from a pediatric nephrology department.”
 


[email protected] Jeong Myeong-jin, Medical Correspondent Reporter