2例甲状旁腺功能减低-感音神经性聋-肾发育不良综合征患者临床特点分析

Analysis of Clinical Characteristics in 2 Cases of Hypoparathyroidism Sensorineural Deafness and Renal Dysplasia Syndrome

刘敏;孟黎平;季慧;范烨;王莹莹;洪琴

1:南京医科大学附属妇产医院(南京市妇幼保健院)儿童保健科

摘要
目的 探讨2例甲状旁腺功能减低-感音神经性聋-肾发育不良综合征(hypoparathyroidism sensorineural deafness-renal dysplasia syndrome, HDR)患者的临床特征和遗传学病因。方法 回顾性分析2例确诊为HDR患者的听力学、基因检测及其他临床资料。结果 病例1新生儿听力筛查(耳声发射+自动听性脑干反应)双耳未通过,诊断为中度感音神经性听力损失,随访血钙、甲状旁腺激素检测正常,泌尿系统和甲状旁腺超声检查未见异常。病例2新生儿听力筛查(耳声发射)通过,3岁时体检耳声发射双耳未通过,诊断为中度感音神经性听力损失,随访血钙、甲状旁腺激素检测正常,甲状旁腺超声检查未见异常,泌尿系统超声示双肾小结晶,形态正常。2例经基因检测,诊断为HDR,分别为GATA3基因突变位点c.867dup和c.65_68dup位点突变,患儿双亲均未携带该突变,均为首次报道。结论 HDR临床表型差异较大,对听力损伤怀疑合并甲状旁腺功能降低或肾功能异常的患儿应尽早完善基因检测,避免漏诊。
关键词
甲状旁腺功能减低-感音神经性聋-肾发育不良综合征;感音神经性听力损失;GATA3基因
基金项目(Foundation):
江苏省妇幼健康科研项目(F202017);; 南京市科技发展专项资金项目(YKK21157)
作者
刘敏;孟黎平;季慧;范烨;王莹莹;洪琴
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