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目的报告1例 Allgrove 综合征,并对患儿及其父母的 AAAS 基因进行分析。提请医生认识和正确诊断该疾病。方法描述患儿临床特征和遗传特征,进行生化、内分泌激素、影像学、神经电生理、眼底及泪腺检查。提取基因组 DNA,特异性片段扩增、测序进行基因分析。结果 7岁女童,因呕吐9个月且渐加重而再次住院。5岁时以低血糖昏迷,皮肤发黑而就诊,诊断为爱迪生病并接受治疗。因频繁呕吐9个月再入院。具有四肢肌腱反射明显亢进,视乳头萎缩、无泪症和贲门失弛缓症。患儿父母为三代以外的姨表亲缘关系。基因分析显示:患儿为纯合子 AAA 基因第8外显子771位硷基 G 缺失突变,导致 ALADIN 蛋白移码突变 p.R258GfsX33。患儿父母各携带一条正常和一条异常基因。结论 Allgrove 综合征临床诊断明确。疾病遗传符合常染色体隐性遗传方式。ALADIN蛋白功能对这一综合征非常重要。临床表型与基因突变位点无显著相关性。
Objective To report 1 case of Allgrove syndrome and to analyze AAAS gene in children and their parents. Ask the doctor to recognize and correctly diagnose the disease. Methods The clinical features and genetic characteristics of children were described. Biochemical, endocrine hormones, imaging, neuroelectrophysiology, fundus and lacrimal gland examination were performed. Genomic DNA was extracted, specific fragments were amplified and sequenced for gene analysis. As a result, a 7-year-old girl was hospitalized again for vomiting for 9 months and getting heavier. 5 years old with hypoglycemic coma, dark skin and treatment, diagnosis and Edison disease treatment. Due to frequent vomiting 9 months and then admitted to hospital. With limb tendon reflex significantly hyperthyroidism, optic atrophy, no tears and achalasia. Parents with children outside the three generations of aunt cousins. Gene analysis showed that: children with homozygote AAA gene exon 8 of 771 base G deletion mutations, leading to ALADIN protein frameshift mutation p.R258GfsX33. Children with their parents each carry a normal and an abnormal gene. Conclusion The clinical diagnosis of Allgrove syndrome is clear. Genetic disease consistent with autosomal recessive inheritance. ALADIN protein function is very important for this syndrome. There was no significant correlation between clinical phenotype and gene mutation sites.