Pendred综合征的听力学特征：范围综述

文献信息

中文摘要

背景： Pendred综合征（PS）是先天性听力损失的主要原因之一，估计占全球遗传性耳聋病例的4-7.5%。Pendred综合征是一种与SLC26A4基因改变相关的常染色体隐性遗传病，以感音神经性听力损失和甲状腺肿为特征。本研究旨在汇编一篇综述，提供对PS听力学特征的准确且最新的描述，为临床医生提供一种可行且早期诊断的实用工具。
方法： 使用Pubmed、Scopus、Google Scholar和Medline数据库，对迄今为止关于听力损失和PS的英文文献进行了详细综述。文献综述按照研究“系统评价和荟萃分析首选报告项目（PRISMA）”提出的范围综述指南进行。
结果： 本综述共纳入13篇全文文章，收集了75例PS患者。对每例患者的听力学结局、临床变异型、前庭导水管扩大和Mondini畸形的存在情况以及甲状腺状态进行了描述。
结论： Pendred综合征是一种以听力损失为主要特征之一的疾病，可在早期阶段表现出来，最终影响儿童的语言发育。Pendred综合征可出现不同的临床变异型，这可能使诊断具有挑战性。因此，临床医生对该疾病有详细的了解至关重要。因此，未来有必要开展大规模、多中心病例系列的进一步研究，以扩展对该疾病的认识，并实现多学科护理发展。

英文摘要

BACKGROUND: Pendred syndrome (PS) is one of the main causes of congenital hearing loss and is estimated to be the cause of 4-7.5% of hereditary deafness cases worldwide. Pendred syndrome is an autosomal recessive disorder associated with alterations in the SLC26A4 gene characterized by sensorineural hearing loss and goiter. The aim of the study is to compile a review providing an accurate and updated description of the audiological features of PS, offering clinicians a practical tool for a feasible and early diagnosis.
METHODS: A detailed review of the English literature to date on hearing loss and PS has been performed using Pubmed, Scopus, Google Scholar and Medline databases. The literature review was performed using the guidelines proposed by the study "Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA)" for scoping review.
RESULTS: A total of 13 full text articles were included in this review, collecting 75 patients with PS. The audiological outcomes, clinical variants, presence of enlarged vestibular aqueduct and Mondini dysplasia, and thyroid status were described for each patient.
CONCLUSIONS: Pendred syndrome is a condition in which hearing loss is among the main features and can manifest at early stages, eventually impacting children's language development. Pendred syndrome may occur in different clinical variants, which can make diagnosis challenging. It is therefore crucial for clinicians to have a detailed knowledge of the condition. Further studies on large, multicenter case series will therefore be essential to expand knowledge of the disease and enable multidisciplinary development of care.