摘要
目的分析肾上腺危象患儿临床特征、基因突变类型及基因型与表型的关系,提高临床对肾上腺危象患儿的认识及诊治水平。方法回顾性分析2017年7月~2019年12月我院诊治为肾上腺危象的24例患儿的临床表现、生化检查及基因检查结果。结果 24例患儿临床表现以体重不增/倒退(95.83%)、皮肤色素沉着(91.67%)、胃肠道症状(83.33%)为主,生化检查均提示代谢性酸中毒、电解质紊乱(低钠和或高钾)、肾素活性增高,22例(91.67%)促肾上腺皮质激素(ACTH)增高,其中19例21羟化酶缺陷症17-羟孕酮增高,余5例(其他类型)17-羟孕酮无增高。共发现3种基因突变,其中19例CYP21A2基因突变、4例DAX1/NR0B1基因突变、1例STAR基因突变,其中CYP21A2基因发现1个新的剪切突变位点c.202+38dupG,DAX1/NR0B1基因发现新的移码突变c.270280del(p.Y91Efs*18);21羟化酶缺陷症基因型与表型的相符率为84.21%。结论儿童肾上腺危象病因复杂,临床特征缺乏特异性,遗传学有助于明确病因及预后评估判断,主张均需尽早完善基因检查。
Objective To analyze the clinical characteristics, types of gene mutations and the relationship between genotypes and phenotypes in children with adrenal crisis, to improve the clinical understanding and diagnosis and treatment of children with adrenal crisis. Methods The clinical manifestations, biochemical and genetic examination results of 24 children diagnosed and treated as adrenal crisis in our hospital from July 2017 to December 2019 were retrospectively analyzed.Results The clinical manifestations of 24 children were mainly weight gain/regression(95.83%), skin pigmentation(91.67%), and gastrointestinal symptoms(83.33%). Biochemical examinations showed metabolic acidosis and electrolyte disturbances(low sodium and or high potassium), increased renin activity, 22 cases(91.67%) increased adrenocorticotropic hormone(ACTH), including 19 cases of 21 hydroxylase deficiency 17-hydroxyprogesterone increased,the remaining 5 cases(other types) had no increase in 17-hydroxyprogesterone. A total of 3 gene mutations were found, including 19 cases of CYP21A2 gene mutation, 4 cases of DAX1/NR0B1 gene mutation, and 1 case of STAR gene mutation, of which 1 new splicing mutation site c.202+38 dupG, DAX1/NR0B1 was found in CYP21A2 gene.The gene found a new frameshift mutation c.270280 del(p.Y91 Efs*18);the coincidence rate of 21 hydroxylase deficiency genotype and phenotype was 84.21%. Conclusion The etiology of adrenal crisis in children is complicated, and the clinical features lack specificity. Genetics is helpful to clarify the cause and prognosis assessment and judgment. It is suggested that genetic testing should be completed as soon as possible.
作者
周莛
朱岷
ZHOU Ting;ZHU Min(Department of Endocrinology,Children's Hospital Affiliated to Chongqing Medical University,Chongqing 400000,China)
出处
《医学信息》
2020年第9期67-72,共6页
Journal of Medical Information
