摘要
目的探讨先天性肾性尿崩症的临床特点、基因诊断及治疗。方法回顾分析2例先天性肾性尿崩症患儿的临床资料。结果2例男性患儿分别为5岁和3岁2个月,均以多饮多尿、生长迟缓为主要表现。经禁水-加压素试验证实为持续低比重尿。尿崩症相关基因检测发现,例1患儿精氨酸加压素受体2(AVPR2)基因外显子2杂合错义突变c.650C>T(p.P 217L),且为新发变异。例2患儿AVPR2基因外显子1及外显子2缺失,亦为新发变异,其母亲为携带者,父亲AVPR2基因未见异常变异。对新发的变异位点通过Mutation-taster及Polyphen2软件预测为致病性变异。2例患儿口服氢氯噻嗪联合吲哚美辛治疗1年,尿量及夜尿减少,无电解质紊乱及肾功能受损等。结论AVPR2基因为先天性肾性尿崩症的主要致病基因,发现2种国内外未见报道的新变异位点。
Objective To analyze the clinical characteristics,genetic diagnosis and treatment of congenital nephrogenic diabetes insipidus(CNDI).Methods Clinical data of two patients diagnosed as diabetes insipidus was retrospectively analyzed.The first patient was a five-year-old boy with a history of polydipsia and polyuria for three years and of growth retardation for half a year.The second patient was first admitted at the age of 3 years and 2 months old with a history of polydipsia and polyuria for two years.Fluid deprivation test and dDAVP intranasal test confirmed both patients had persistent low urine specific gravity.Then peripheral blood samples of two patients and their parents were collected,and genetic test for diabetes insipidus was performed.Two patients were both treated with hydrochlorothiazide combined with indomethacin and therapeutic effect was followed up one year later.Results Depending on polydipsia,hyperuresis and results of fluid deprivation test and dDAVP intranasal test,CNDI was clinically confirmed.Gene sequencing found a novel c.650C>T hemizygous mutation in the exon 2 of AVPR2 of the first patient,and a novel large deletion included exon 1 and exon 2 region of AVPR2 gene in the patient 2.His mother was a mutation carrier,no mutation was found in his father.Both patients were treated with hydrochlorothiazide and indomethacin for one year.Then follow-up found urine volume and nocturia were reduced and no electrolyte disturbance and renal function damage in two patients.Conclusion AVPR2 gene was a main disease-causing gene for CNDI.Two variants found in the both patients were not reported.Hydrochlorothiazide and indomethacin can relieve clinical symptom.
作者
王传凯
王春林
梁黎
Wang Chuankai;Wang Chunlin;Liang Li(The First Affiliated Hospital,College of Medicine,Zhejiang University,Hangzhou 310000,Zhejiang,China)
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2020年第2期90-93,共4页
Journal of Clinical Pediatrics
