Investigation of current clinical practices and perceptions of patients and caregivers regarding Alport syndrome in South Korea

Background: Alport syndrome (AS) is a highly prevalent inherited kidney disease. Early diagnosis and intervention are crucial for improved kidney outcomes. This study evaluated awareness among Korean clinicians about AS and assessed the understanding of AS patients and caregivers.

Methods: An online survey targeting registered members of the Korean Society of Nephrology, the Korean Society of Pediatric Nephrology, AS patients, and their caregivers was conducted from January to April 2023.

Results: Out of 103 respondents, most had treated fewer than 10 AS patients. For certain kidney diseases, such as chronic kidney disease of unknown origin and focal segmental glomerulosclerosis, half or fewer considered AS as a potential diagnosis. Only half preferred immediate confirmation tests for suspected AS. Genetic testing was available at half of the medical centers, and fewer than half of the adult nephrologists considered genetic testing to be essential. While all the surveyed nephrologists would prescribe renin-angiotensin system blockade, the majority hesitated to initiate treatment. Vigilant genetic testing for donor candidates was not a common practice. While 80% of patients and 50% of caregivers understood the nature and prognosis of AS, they regretted the delayed diagnoses, insufficient explanations, and the absence of support groups.

Conclusion: Not rarely, AS patients may have been unrecognized as AS. Despite the noteworthy advancement of AS, the recent guidelines have not been widely adopted in clinical practice in Korea. Considering the challenges in Korea, there is an urgent need for locally tailored clinical practice recommendations and a dedicated registry to optimize patient outcomes.