A review of clinical characteristics and genetic backgrounds in Alport syndrome.
A review of clinical characteristics and genetic backgrounds in Alport syndrome.
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对Alport综合征的临床特征和遗传背景的回顾。
DOI：
10.1007/s10157-018-1629-4
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发表时间：
2019-03
影响因子：
2.3
通讯作者：
Iijima K
中科院分区：
文献类型：
--
作者：
Nozu K;Nakanishi K;Abe Y;Udagawa T;Okada S;Okamoto T;Kaito H;Kanemoto K;Kobayashi A;Tanaka E;Tanaka K;Hama T;Fujimaru R;Miwa S;Yamamura T;Yamamura N;Horinouchi T;Minamikawa S;Nagata M;Iijima K
Alport综合征（AS）是一种进行性遗传性肾病，其特征是感音神经性听力损失和眼部异常。它分为三种遗传模式，即X连锁Alport综合征（XLAS），常染色体隐性AS（ARAS）和常染色体显性AS（ADAS）。XLAS是由COL 4A 5中的致病性变体引起的，而ADAS和ARAS是由COL 4A 3/COL 4A 4中的致病性变体引起的。诊断通常是病理学，但最近的进展，在全面的遗传分析，使基因检测进行AS的诊断作为一线诊断。由于这些进展，获得了关于AS遗传学的大量信息，并揭示了这种疾病的遗传背景，包括基因型-表型相关性和一些男性XLAS病例的发病机制，这些病例导致迟发性终末期肾病（ESRD）的表型较轻。目前没有针对AS的根治性治疗，仅使用肾单位保护药物进行治疗以延迟进展为ESRD。血管紧张素转换酶抑制剂可明显延缓终末期肾病的发展。最近，一些治疗这种疾病的新药已进入临床试验或在实验室开发。本文就AS的诊断策略、基因型-表型相关性、轻度表型的发病机制以及治疗等方面进行综述。
Alport syndrome (AS) is a progressive hereditary renal disease that is characterized by sensorineural hearing loss and ocular abnormalities. It is divided into three modes of inheritance, namely, X-linked Alport syndrome (XLAS), autosomal recessive AS (ARAS), and autosomal dominant AS (ADAS). XLAS is caused by pathogenic variants in COL4A5, while ADAS and ARAS are caused by those in COL4A3/COL4A4. Diagnosis is conventionally made pathologically, but recent advances in comprehensive genetic analysis have enabled genetic testing to be performed for the diagnosis of AS as first-line diagnosis. Because of these advances, substantial information about the genetics of AS has been obtained and the genetic background of this disease has been revealed, including genotype–phenotype correlations and mechanisms of onset in some male XLAS cases that lead to milder phenotypes of late-onset end-stage renal disease (ESRD). There is currently no radical therapy for AS and treatment is only performed to delay progression to ESRD using nephron-protective drugs. Angiotensin-converting enzyme inhibitors can remarkably delay the development of ESRD. Recently, some new drugs for this disease have entered clinical trials or been developed in laboratories. In this article, we review the diagnostic strategy, genotype–phenotype correlation, mechanisms of onset of milder phenotypes, and treatment of AS, among others.
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