Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-Cho, Chuo, Kobe, Hyogo, 650-0017, Japan.
Division of Pediatric Nephrology, College of Medicine, University of the Philippines-Philippine General Hospital, Manila, Philippines.
Clin Exp Nephrol. 2023 Sep;27(9):776-780. doi: 10.1007/s10157-023-02358-6. Epub 2023 Jun 8.
Alport syndrome is one of the most common inherited kidney diseases worldwide. A genetic test or kidney biopsy is necessary for a definite diagnosis of this disease, and an accurate diagnosis system for this disease is highly desired in each country. However, the current situation in Asian countries is not clear. Therefore, the tubular and inherited disease working group of the Asian Pediatric Nephrology Association (AsPNA) aimed to assess the current situation of diagnosis and treatment for Alport syndrome in Asia.
The group conducted an online survey among the members of AsPNA in 2021-2022. Collected data included the number of patients for each inheritance mode, availability of gene tests or kidney biopsy, and treatment strategies for Alport syndrome.
A total of 165 pediatric nephrologists from 22 countries in Asia participated. Gene test was available in 129 institutes (78%), but the cost was still expensive in most countries. Kidney biopsy was available in 87 institutes (53%); however, only 70 can access electron microscopy, and 42 can conduct type IV collagen α5 chain staining. Regarding treatment, 140 centers use renin-angiotensin system (RAS) inhibitors (85%) for Alport syndrome patients.
This study result might suggest that the system is underdeveloped enough to diagnose all Alport syndrome patients in most Asian countries. However, once diagnosed with Alport syndrome, most of them were treated with RAS inhibitors. These survey results can be used to address knowledge, diagnostic system, and treatment strategy gaps and improve the Alport patients' outcomes in Asian countries.
Alport 综合征是全球最常见的遗传性肾脏疾病之一。基因检测或肾活检对于该病的明确诊断是必要的,每个国家都非常需要一个准确的诊断系统。然而,亚洲国家的现状尚不清楚。因此,亚洲儿科肾脏病学会(AsPNA)的肾小管和遗传性疾病工作组旨在评估亚洲 Alport 综合征的诊断和治疗现状。
该小组于 2021 年至 2022 年期间对 AsPNA 成员进行了在线调查。收集的数据包括每种遗传模式的患者人数、基因检测或肾活检的可用性以及 Alport 综合征的治疗策略。
共有来自亚洲 22 个国家的 165 名儿科肾病学家参与了该研究。129 家机构(78%)可进行基因检测,但大多数国家的检测费用仍然昂贵。87 家机构(53%)可进行肾活检;然而,仅有 70 家能够进行电子显微镜检查,仅有 42 家能够进行 IV 型胶原α5 链染色。关于治疗,140 个中心(85%)对 Alport 综合征患者使用肾素-血管紧张素系统(RAS)抑制剂。
本研究结果可能表明,在大多数亚洲国家,该系统还不够发达,无法诊断所有 Alport 综合征患者。然而,一旦诊断出 Alport 综合征,大多数患者都接受了 RAS 抑制剂治疗。这些调查结果可用于解决知识、诊断系统和治疗策略方面的差距,并改善亚洲国家 Alport 患者的预后。