DAX-1基因突变导致先天性肾上腺发育不良的临床分析

Clinical Analysis of DAX-1 Gene Mutation for Adrenal Hypoplasia Congenital

目的分析X连锁先天性肾上腺发育不良的临床表现和分子水平改变情况,讨论基因突变和临床表型变化的关系及可能机制。方法搜集先证者和家系成员的临床资料,明确诊断先证者的疾病名称;根据病史绘制系谱图分析遗传方式,运用二代测序方法检测基因突变。结合先证者的临床表现和体内激素分泌的结果,给予药物治疗后连续观察3个月先证者的临床表现、体内激素水平的变化及影像学的改变。结果先证者确诊为X连锁先天性肾上腺发育不良,此家系为常染色体隐性遗传,通过基因测序发现DAX-1基因新的突变位点(c.214G>C)。经过3个月的糖皮质激素和盐皮质激素治疗后,观察该患者对应的临床表现、生化指标和激素指标等均明显转好,趋于康复水平。结论新的DAX-1基因突变位点c.214G>C可造成X连锁先天性肾上腺发育不良,通过药物治疗可缓解患者临床症状。

Objective To investigate and analyze the clinical manifestations and molecular changes of X-linked adrenal hypoplasia congenital(AHC). To discuss the relationship and potential mechanism of gene mutation and clinical phenotypic changes.Methods The clinical data of proband and family members were collected to diagnose the detailed disease. The genealogy was drawn based on the medical history to analyse the inheritance mode. In addition, the gene mutation was detected by the next-generation sequencing method. The results of clinical manifestations, hormone levels and imaging changes of probands after 3-month drug treatment were analyzed combined with the previous results.Results This proband was detected to diagnose as X-linked AHC. This pedigree was presented as autosomal recessive inheritance. Gene sequencing revealed that the novel DAX-1 gene mutation site(c.214 G>C). In addition, after 3-month glucocorticoid therapy, the clinical symptoms, biochemical indicators and hormone levels of this proband were significantly improved to achieve recovery.Conclusion The novel DAX-1 gene mutation c.214 G>C can cause X-linked AHC. Additionally, drug treatment can alleviate the clinical symptoms of this proband.