Zou Jing, Duan Xiangqiang, Zheng Guiliang, Zhao Zhen, Chen Shiyue, Dai Pu, Zheng Hongliang
Department of Otolaryngology-Head and Neck Surgery, Center for Otolaryngology-Head & Neck Surgery of Chinese PLA, Changhai Hospital, Second Military Medical University, Shanghai, China.
Department of Radiology, National Key Discipline, Changhai Hospital, Second Military Medical University, Shanghai, China.
J Otol. 2016 Jun;11(2):78-83. doi: 10.1016/j.joto.2016.06.001. Epub 2016 Jun 8.
To investigate immune-related genetic background in bilateral sudden sensorineural hearing loss (SSNHL).
The case is a 45-year-old man presenting with a 7-year history of bilateral profound SSNHL. Blood biochemical testing demonstrated increased levels of total cholesterol (5.88 mmol/L). Tests for hepatitis B showed a positive antibody against the hepatitis B core antigen. Complement C3 was below the normal value, and complement C4 and IgG were in the lower range of normal values. CT images showed a normal inner ear and vestibular aqueduct but round window membranous ossification on both sides. A total number of 232 immune-associated genes were sequenced using the next generation sequencing technique.
Mutations were detected in 5 genes, including the phosphoinositide 3-kinase catalytic subunit delta (PIK3CD), caspase recruitment domain-containing protein 9 (CARD9), complement factor H-related (CFHR2), immunoglobulin lambda-like polypeptide 1 Protein (IGLL1), and transmembrane channel-like gene family 8 (TMC8). In the PIK3CD gene, a C896T substitute in exon 7 was detected. This mutation causes primary immunodeficiency and is an autosomal dominant disease.
The PIK3CD C896T mutation responsible for primary immunodeficiency may contribute to the onset of bilateral SSNHL with subsequent rapid progression.
研究双侧突发性感音神经性听力损失（SSNHL）的免疫相关遗传背景。
该病例为一名45岁男性，有7年双侧重度SSNHL病史。血液生化检测显示总胆固醇水平升高（5.88 mmol/L）。乙肝检测显示乙肝核心抗原抗体呈阳性。补体C3低于正常值，补体C4和IgG处于正常范围下限。CT图像显示内耳和前庭导水管正常，但双侧圆窗膜骨化。使用下一代测序技术对总共232个免疫相关基因进行了测序。
在5个基因中检测到突变，包括磷酸肌醇3激酶催化亚基δ（PIK3CD）、含半胱天冬酶募集结构域蛋白9（CARD9）、补体因子H相关蛋白2（CFHR2）、免疫球蛋白λ样多肽1蛋白（IGLL1）和跨膜通道样基因家族8（TMC8）。在PIK3CD基因中，检测到外显子7的C896T替代。该突变导致原发性免疫缺陷，是一种常染色体显性疾病。
导致原发性免疫缺陷的PIK3CD C896T突变可能促成双侧SSNHL的发病并随后快速进展。
