摘要
目的 分析1例甲状旁腺功能减退-感音神经性耳聋-肾发育不良（HDR） 综合征患者的临床特点并对相关GATA3基因突变进行分析。方法 报告1例22岁HDR综合征患者的临床表现、诊治经过及基因检测结果并复习相关文献。结果 患者临床表现为发作性抽搐、听力下降，查体有面神经征及陶瑟征阳性。多次查血钙、甲状旁腺激素均低于正常，纯音听阈测定显示感音性神经性耳聋，腹部彩超提示右肾未探及，考虑右肾缺如，肾功能检查提示肾功能不全。GATA3基因检测提示第六外显子IVS6-1G-A （G/A杂合，splicing），显示在第6外显子上游第一个碱基处有G到A的突变。入院后予补充钙剂及活性维生素D治疗，病情好转。结论 HDR综合征是罕见的内分泌疾病，应提高对本病的认识，避免漏诊[本病例的GATA3基因突变类型IVS6-1G-A至今尚未见报道，为新发现的基因突变位点。
Objective To explore the clinical manifestation of a patient with hypoparathyroidismsensorineural deafness-renal dysplasia （HDR） syndrome and to sequence the related GATA3 gene of the patient. Methods A 22 year old person with HDR syndrome was reported in regard to clinical manifestation, laboratory examination, and genetic mutation. Some related literatures were reviewed. Results The patient showed tetany, deafness, and positive Chvosteks＇ and Trousseau＇ s signs. The initial laboratory studies showed that serum concentration of calcium was lowed and the iPTH level were lower than normal. Binaural pure tone audiometry showed Binaural sensorineural deafness. Colour doppler ultrasound revealed that his right kidney was not observed and the level of creatinine was increased, indicating renal insufficiency. GATA3 mutations on DNA sequence analysis indicated that the 6 exon IVS6-1G-A （ G/A heterozygosis splicing）, showed the mutation of G to A is in the upstream of the first base in the six exon. After treating with calcium carbonate and vitamin D, the symptoms and signs were improved. Conclusion HDR syndrome is a rare endocrine disease, that should receive more attention in order to avoid missing diagnosis ; The IVS6-1G-A as a novel mutation of GATA3 gene, has not been reported so far.
出处
《中华内分泌代谢杂志》
CAS
CSCD
北大核心
2015年第4期311-315,共5页
Chinese Journal of Endocrinology and Metabolism
