鳃耳肾谱系障碍研究进展

鳃耳肾谱系障碍是一种少见的常染色体显性遗传性综合征型聋疾病，特征性表型包括听力下降、耳前瘘管、鳃裂发育异常和（或）伴有肾脏不发育或发育不全等。临床上根据是否伴有肾脏异常主要分为鳃耳肾综合征和鳃耳综合征两类。由于该类综合征的临床表型具有高度的异质性，表现为同一家系中不同患者或者同一患者的左右两侧在临床表型（鳃裂发育情况、耳廓形态、听力学表现以及肾脏畸形程度）方面也存在很大的差异，因此较难确诊。本文简要回顾了鳃耳肾谱系障碍的常见致病基因、临床表现、基因型和表型的关联、诊断标准、治疗、预防和遗传咨询等方面的最新进展，期望为鳃耳肾谱系障碍的临床诊治提供帮助。

Progress in the research of branchiootorenal spectrum disorders

Branchiootorenal Spectrum Disorders (BOSD), comprising branchiootorenal (BOR) syndrome and branchiootic syndrome (BOS), is a rare autosomal dominant hereditary disease characterized by hearing loss, preauricular pits, second branchial arch anomalies, with or without renal anomalies. Since extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family. BOR syndrome and BOS can be seen in the same family. And it's difficult to make a diagnosis. In this review, we simply summarize the latest progress in the pathogenesis, clinical manifestations, genotype and phenotypic association, diagnostic criteria, treatment methods, prevention and genetic counseling of Branchiootorenal Spectrum Disorders, hoping to provide a reference for the diagnosis and treatment of BOR/BOS.