Alport syndrome is caused by mutations in the genes COL4A3, COL4A4 or COL4A5 and is characterised by progressive glomerular disease, sensorineural hearing loss and ocular defects. Occurring in less than 1:5000, Alport syndrome is a rare genetic disorder but still accounts for > 1% of the prevalent population receiving renal replacement therapy. There is also increasing awareness about the risk of chronic kidney disease in individuals with heterozygous mutations in Alport syndrome genes. The mainstay of current therapy is the use of angiotensin-converting enzyme inhibitors and angiotensin receptor blockers, yet potential new therapies are now entering clinical trials. The 2017 International Workshop on Alport Syndrome in Glasgow was a pre-conference workshop ahead of the 50th anniversary meeting of the European Society for Pediatric Nephrology. It focussed on updates in clinical practice, genetics and basic science and also incorporated patient perspectives. More than 80 international experts including clinicians, geneticists, researchers from academia and industry, and patient representatives took part in panel discussions and breakout groups. This report summarises the workshop proceedings and the relevant contemporary literature. It highlights the unique clinician, patient and researcher collaborations achieved by regular engagement between the groups.

中文翻译：

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临床，患者和研究人员合作在Alport综合征中的重要性。

Alport综合征是由基因COL4A3，COL4A4或COL4A5的突变引起的，其特征是进行性肾小球疾病，感觉神经性听力损失和眼缺陷。Alport综合征的发生率不到1：5000，是一种罕见的遗传性疾病，但仍占接受肾脏替代疗法的普遍人群的1％以上。对于Alport综合征基因杂合突变的个体，人们对慢性肾脏疾病风险的认识也越来越高。当前疗法的主要手段是使用血管紧张素转化酶抑制剂和血管紧张素受体阻滞剂，但是潜在的新疗法目前正在进入临床试验。2017年在格拉斯哥举行的Alport综合征国际研讨会是欧洲儿童肾脏病学会成立50周年会议之前的会前研讨会。它着重于临床实践，遗传学和基础科学方面的更新，并结合了患者的观点。包括临床医生，遗传学家，学术界和行业研究人员以及患者代表在内的80多位国际专家参加了小组讨论和分组讨论。本报告总结了研讨会的程序和相关的当代文学。它着重说明了各小组之间的定期互动所带来的独特的临床医生，患者和研究人员合作。本报告总结了研讨会的程序和相关的当代文学。它着重说明了各小组之间的定期互动所带来的独特的临床医生，患者和研究人员合作。本报告总结了研讨会的程序和相关的当代文学。它着重说明了各小组之间的定期互动所带来的独特的临床医生，患者和研究人员合作。