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Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome.常染色体隐性遗传性 Alport 综合征患者的 RAAS 抑制的基因型-表型相关性及肾脏保护作用。
Pediatr Nephrol. 2021 Sep;36(9):2719-2730. doi: 10.1007/s00467-021-05040-9. Epub 2021 Mar 27.
2
Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome.基因型-表型相关性影响日本男性 X 连锁 Alport 综合征患者对血管紧张素靶向药物的反应。
Kidney Int. 2020 Dec;98(6):1605-1614. doi: 10.1016/j.kint.2020.06.038. Epub 2020 Jul 24.
3
A multicenter, randomized, placebo-controlled, double-blind phase 3 trial with open-arm comparison indicates safety and efficacy of nephroprotective therapy with ramipril in children with Alport's syndrome.一项多中心、随机、安慰剂对照、双盲3期试验及开放组比较表明,赖诺普利对Alport综合征患儿进行肾保护治疗具有安全性和有效性。
Kidney Int. 2020 Jun;97(6):1275-1286. doi: 10.1016/j.kint.2019.12.015. Epub 2020 Jan 17.
4
A review of clinical characteristics and genetic backgrounds in Alport syndrome.奥尔波特综合征的临床特征与遗传背景综述。
Clin Exp Nephrol. 2019 Feb;23(2):158-168. doi: 10.1007/s10157-018-1629-4. Epub 2018 Aug 20.
5
Natural History and Genotype-Phenotype Correlation in Female X-Linked Alport Syndrome.女性X连锁遗传性肾炎的自然病史及基因型-表型相关性
Kidney Int Rep. 2017 May 4;2(5):850-855. doi: 10.1016/j.ekir.2017.04.011. eCollection 2017 Sep.
6
End-stage kidney disease due to Alport syndrome: outcomes in 296 consecutive Australia and New Zealand Dialysis and Transplant Registry cases.因 Alport 综合征导致的终末期肾病:296 例澳大利亚和新西兰透析和移植登记处连续病例的结局。
Nephrol Dial Transplant. 2014 Dec;29(12):2277-86. doi: 10.1093/ndt/gfu254. Epub 2014 Jul 24.
7
Cyclosporin A may cause injury to undifferentiated glomeruli persisting in patients with Alport syndrome.环孢素A可能会对患有奥尔波特综合征的患者体内持续存在的未分化肾小球造成损伤。
Clin Exp Nephrol. 2014 Jun;18(3):492-8. doi: 10.1007/s10157-013-0836-2. Epub 2013 Jul 5.
8
Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy.早期血管紧张素转换酶抑制剂治疗 Alport 综合征可延缓肾衰竭并提高预期寿命。
Kidney Int. 2012 Mar;81(5):494-501. doi: 10.1038/ki.2011.407. Epub 2011 Dec 14.
9
Cyclosporine A treatment in patients with Alport syndrome: a single-center experience.环孢素 A 治疗 Alport 综合征患者:单中心经验。
Pediatr Nephrol. 2010 Jul;25(7):1269-75. doi: 10.1007/s00467-010-1484-3. Epub 2010 Mar 18.
10
X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study.X连锁遗传性肾炎:195个家庭中女性患者的自然病史及基因型-表型相关性:一项“欧洲共同体遗传性肾炎联合行动”研究
J Am Soc Nephrol. 2003 Oct;14(10):2603-10. doi: 10.1097/01.asn.0000090034.71205.74.

亚洲国家 Alport 综合征诊治现状调查:亚洲儿科肾脏病学会(AsPNA)小管及遗传工作组调查结果。

Investigation of the current situation regarding diagnosis and treatment of Alport syndrome in Asian countries: results of survey of the Asian Paediatric Nephrology association (AsPNA) tubular and inherited working group.

机构信息

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.

出版信息

Clin Exp Nephrol. 2023 Sep;27(9):776-780. doi: 10.1007/s10157-023-02358-6. Epub 2023 Jun 8.

DOI:10.1007/s10157-023-02358-6
PMID:37289334
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10432360/
Abstract

BACKGROUND

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.

METHODS

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.

RESULTS

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.

CONCLUSIONS

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.

摘要

背景

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。

方法

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。

结果

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。

结论

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。