Ribeiro João Carlos, Oliveiros Bárbara, Pereira Paulo, António Natália, Hummel Thomas, Paiva António, Silva Eduardo D
Department of Otorhinolaryngology, Coimbra University Hospitals, Portugal.
Faculty of Medicine, University of Coimbra, Portugal.
Sci Rep. 2016 Jun 22;6:28309. doi: 10.1038/srep28309.
Usher Syndrome (USH) is a rare disease with hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction. A phenotype heterogeneity is reported. Recent evidence indicates that USH is likely to belong to an emerging class of sensory ciliopathies. Olfaction has recently been implicated in ciliopathies, but the scarce literature about olfaction in USH show conflicting results. We aim to evaluate olfactory impairment as a possible clinical manifestation of USH. Prospective clinical study that included 65 patients with USH and 65 normal age-gender-smoking-habits pair matched subjects. A cross culturally validated version of the Sniffin' Sticks olfaction test was used. Young patients with USH have significantly better olfactory scores than healthy controls. We observe that USH type 1 have a faster ageing olfactory decrease than what happens in healthy subjects, leading to significantly lower olfactory scores in older USH1 patients. Moreover, USH type 1 patients showed significantly higher olfactory scores than USH type 2, what can help distinguishing them. Olfaction represents an attractive tool for USH type classification and pre diagnostic screening due to the low cost and non-invasive nature of the testing. Olfactory dysfunction should be considered among the spectrum of clinical manifestations of Usher syndrome.
尤塞氏综合征（USH）是一种罕见疾病，伴有听力丧失、色素性视网膜炎，有时还伴有前庭功能障碍。据报道存在表型异质性。最近的证据表明，USH可能属于一类新出现的感觉纤毛病。嗅觉最近被认为与纤毛病有关，但关于USH中嗅觉的文献稀少，结果相互矛盾。我们旨在评估嗅觉障碍是否为USH的一种可能临床表现。一项前瞻性临床研究纳入了65例USH患者和65例年龄、性别、吸烟习惯匹配的正常受试者。使用了经过跨文化验证的嗅觉棒嗅觉测试版本。USH年轻患者的嗅觉评分显著高于健康对照组。我们观察到，USH1型患者嗅觉衰退的速度比健康受试者更快，导致老年USH1患者的嗅觉评分显著更低。此外，USH1型患者的嗅觉评分显著高于USH2型患者，这有助于区分两者。由于测试成本低且具有非侵入性，嗅觉是USH分型和诊断前筛查的一个有吸引力的工具。嗅觉功能障碍应被视为尤塞氏综合征临床表现谱的一部分。
