ABSTRACT

Introduction

Ataxia-telangiectasia (A-T) is a rare autosomal recessive syndrome characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, variable immunodeficiency, radiosensitivity, and cancer predisposition. Mutations cause A-T in the ataxia telangiectasia mutated (ATM) gene encoding a serine/threonine-protein kinase.

Areas covered

The authors reviewed the literature on PubMed, Web of Science, and Scopus databases to collect comprehensive data related to A-T. This review aims to discuss various update aspects of A-T, including epidemiology, pathogenesis, clinical manifestations, diagnosis, prognosis, and management.

Expert opinion

A-T as a congenital disorder has phenotypic heterogeneity, and the severity of symptoms in different patients depends on the severity of mutations. This review provides a comprehensive overview of A-T, although some relevant questions about pathogenesis remain unanswered, probably owing to the phenotypic heterogeneity of this monogenic disorder. The presence of various clinical and immunologic manifestations in A-T indicates that the identification of the role of defective ATM in phenotype can be helpful in the better management and treatment of patients in the future.

中文翻译：

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共济失调毛细血管扩张症：流行病学、发病机制、临床表型、诊断、预后和管理。

摘要

介绍

共济失调毛细血管扩张症 (AT) 是一种罕见的常染色体隐性遗传综合征，其特征是进行性小脑共济失调、眼皮肤毛细血管扩张症、可变免疫缺陷、放射敏感性和癌症易感性。突变导致共济失调毛细血管扩张突变( ATM ) 基因编码丝氨酸/苏氨酸蛋白激酶中的AT 。

覆盖区域

作者回顾了 PubMed、Web of Science 和 Scopus 数据库上的文献，以收集与 AT 相关的综合数据。本综述旨在讨论 AT 的各个更新方面，包括流行病学、发病机制、临床表现、诊断、预后和管理。

专家意见

AT作为一种先天性疾病具有表型异质性，不同患者症状的严重程度取决于突变的严重程度。本综述提供了对 AT 的全面概述，尽管关于发病机制的一些相关问题仍未得到解答，这可能是由于这种单基因疾病的表型异质性。AT 中各种临床和免疫学表现的存在表明，鉴定有缺陷的 ATM 在表型中的作用有助于未来更好地管理和治疗患者。