Kim Dabin, Ahn Yo Han, Kang Eunjeong, Lee Hajeong, Cho Min Hyun, Kang Hee Gyung, Kim Ji Hyun
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Republic of Korea.
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.
Kidney Res Clin Pract. 2025 Sep;44(5):825-833. doi: 10.23876/j.krcp.23.260. Epub 2024 Aug 24.
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.
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.
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.
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.
奥尔波特综合征（AS）是一种高度常见的遗传性肾脏疾病。早期诊断和干预对于改善肾脏预后至关重要。本研究评估了韩国临床医生对AS的认知情况，并评估了AS患者及其照料者的理解程度。
2023年1月至4月，针对韩国肾脏病学会、韩国小儿肾脏病学会的注册会员、AS患者及其照料者开展了一项在线调查。
在103名受访者中，大多数人治疗过的AS患者不到10例。对于某些肾脏疾病，如病因不明的慢性肾脏病和局灶节段性肾小球硬化症，只有半数或更少的人将AS视为潜在诊断。只有半数人倾向于对疑似AS立即进行确诊检查。一半的医疗中心可进行基因检测，不到半数的成年肾脏病医生认为基因检测至关重要。虽然所有接受调查的肾脏病医生都会开具肾素-血管紧张素系统阻滞剂，但大多数人在开始治疗时犹豫不决。对供体候选人进行警惕的基因检测并非普遍做法。虽然80%的患者和50%的照料者了解AS的性质和预后，但他们对诊断延迟、解释不足以及缺乏支持小组感到遗憾。
AS患者未被识别为AS的情况并不罕见。尽管AS有显著进展，但韩国临床实践中尚未广泛采用最新指南。考虑到韩国面临的挑战，迫切需要制定适合当地的临床实践建议和专门的登记系统，以优化患者预后。
