Matsunaga Tatsuo, Fujioka Masato, Hosoya Makoto
Department of Otolaryngology/Laboratory of Auditory Disorders, National Institute of Sensory Organs, National Tokyo Medical Center.
Department of Otorhinolarygology, Keiyu Hospital.
Nihon Rinsho. 2013 Dec;71(12):2215-22.
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss, goiter, and a partial defect in iodide organification, and is the most common syndromic hearing loss. Hearing loss is congenital in most cases and is accompanied by an enlarged vestibular aqueduct and a Mondini cochlea. Pendred syndrome and autosomal recessive deafness-4 (DFNB4) with enlarged vestibular aqueduct comprise a phenotypic spectrum caused by mutations in SLC26A4. Recently, mutations in FOXI1 and KCNJ10 have also been identified in DFNB4. Molecular mechanism of hearing loss and goiter remains to be elucidated, and therapies which can reverse or prevent the progression of the symptoms are not available. Here, we describe advances in the basic, clinical, and translational studies on Pendred syndrome.
彭德莱德综合征是一种常染色体隐性疾病，其特征为感音神经性听力损失、甲状腺肿以及碘有机化部分缺陷，是最常见的综合征性听力损失。多数情况下，听力损失为先天性，伴有前庭导水管扩大和Mondini耳蜗。彭德莱德综合征以及伴有前庭导水管扩大的常染色体隐性耳聋-4（DFNB4）构成了由SLC26A4突变引起的表型谱。最近，在DFNB4中也发现了FOXI1和KCNJ10的突变。听力损失和甲状腺肿的分子机制仍有待阐明，目前尚无能够逆转或预防症状进展的治疗方法。在此，我们描述了彭德莱德综合征在基础、临床和转化研究方面的进展。
