CAJ | 학술논문

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.
목적 분석1례갑상방선공능감퇴-감음신경성이롱-신발육불량(HDR)종합정환자적림상특점병대상관GATA3기인돌변진행분석.방법 보고1례22세HDR종합정환자적림상표현、진치경과급기인검측결과병복습상관문헌.결과 환자림상표현위발작성추휵、은력하강,사체유면신경정급도슬정양성.다차사혈개、갑상방선격소균저우정상,순음은역측정현시감음성신경성이롱,복부채초제시우신미탐급,고필우신결여,신공능검사제시신공능불전.GATA3기인검측제시제륙외현자IVS6-1G-A(G/A잡합,splicing),현시재제6외현자상유제일개감기처유G도A적돌변.입원후여보충개제급활성유생소D치료,병정호전.결론 HDR종합정시한견적내분비질병,응제고대본병적인식,피면루진;본병례적GATA3기인돌변류형IVS6-1G-A지금상미견보도,위신발현적기인돌변위점.
Objective To explore the clinical manifestation of a patient with hypoparathyroidsmsensorineural 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.