家族性听神经病变谱系障碍1例报告

Aravinda Hr, A. Shalini, Prasad Cm
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摘要

听觉神经病变谱系障碍(ANSD)是耳蜗内外毛细胞功能正常,但内毛细胞和/或听神经功能受损的一种听力障碍。它是一种异质性疾病,可以有任何先天性或后天的原因。此外,听神经病变的病因非常广泛,可能包括早产、高胆红素血症、缺氧、缺氧、先天性脑异常、耳毒性药物暴露和遗传因素。据估计,大约40%的病例具有潜在的遗传起源,可在综合征和非综合征条件下遗传。下面的病例报告作为ANSD潜在遗传特征的额外证据。本研究提出了两例父亲和女儿均被诊断为ANSD的病例。
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Familial auditory neuropathy spectrum disorder – A case report
Auditory Neuropathy Spectrum Disorder (ANSD) is a hearing disorder where outer hair cell function inside the cochlea is typical, but inner hair cell and/or the auditory nerve function is disrupted. It is a heterogeneous disorder which can have any congenital or acquired causes. Additionally, the etiology of auditory neuropathy is immense, which may comprise prematurity, hyperbilirubinaemia, anoxia, hypoxia, congenital brain anomalies, ototoxic drug exposure, and genetic actors. It is projected that roughly 40% of cases have an underlying genetic origin, which can be inherited in both syndromic and non-syndromic conditions. The below case report serves as an extra evidence for the underlying genetic trait in ANSD. The study presents two cases where, both father and daughter were diagnosed as ANSD.
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