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

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。

Objective To investigate the clinical characteristics and genetic causes in 2 patients with hypoparathyroidism,sensorineural deafness and renal dysplasia syndrome(HDR).Methods A retrospective analysis of audiology,gene detection,and other clinical diagnostic data was performed on 2 patients diagnosed with HDR syndrome.Results Patient 1 failed the newborn hearing screening(otoacoustic emission)and was diagnosed with moderate sensorineural hearing loss through audiology evaluation.Follow-up tests of blood calcium and parathyroid hormone levels were normal,and ultrasound examinations of the urinary system and parathyroid gland showed no abnormalities.Patient 2 passed the newborn hearing screening but failed the 3-year-old physical examination(otoacoustic emission)and was diagnosed with moderate sensorineural hearing loss.Follow-up tests of blood calcium and parathyroid hormone levels were normal,and the parathyroid gland ultrasound showed no abnormalities,but the renal ultrasound showed bilateral small renal calculi with normal morphology.Both patients were diagnosed with HDR syndrome through gene testing,and the 2 GATA3 gene mutation sites(c.867dup,c.65_68dup)causing the disease were both reported for the first time.Conclusion The clinical phenotypes of HDR syndrome are highly variable.Children with suspected hearing loss accompanied by hypoparathyroidism or renal dysfunction should have gene testing and other related examinations as soon as possible to avoid misdiagnosis.