广西医学2017，Vol.39Issue(3)：337-341,349,6.DOI:10.11675/j.issn.0253-4304.2017.03.15
7例儿童原发性肾上腺皮质功能减退症临床特征及NR0B1、类固醇生成因子-1基因突变分析
Analysis on clinical features and mutations of NR0B1 and steroidogenic factor-1 genes in 7 cases with childhood primary adrenal insufficiency
摘要
Abstract
Objective To investigate the clinical features and mutations of NR0B1 and steroidogenic factor-1(SF1) genes in children with primary adrenal insufficiency,and to analyze their relationship.Methods Seven patients with primary adrenal insufficiency from 5 families were enrolled.The clinical symptoms and signs,and laboratory examination results including blood adrenocorticotropic hormone(ACTH),cortisol, and electrolytes were recorded.Blood samples of the patients and their family members were collected,then exon sequencing for NR0B1 and SF1 genes was conducted.Multiplex ligation-dependent probe amplification ( MLPA) was performed in the patients with negative results of exon sequencing.Results Seven patients were male and had childhood-onset.Three cases had family history.Skin hyperpigmentation with various degrees,elevated ACTH level,and low cortisol level were observed in all patients .Insertion mutation(5800-5801 ins G) of NR0B1 only occurred in one patient without manifestations of adrenal crisis ,hypogonadotropic hypogonadism and abnormal reproductive development synonymous mutation(5129C>T,C38C) and insertion mutation(5800-5801 ins G) of NR0B1 occurred in his mother without manifestations of adrenal insufficiency .Mutation of SF1 gene was not detected in any patients and their family members .No large fragment deletion or gene repeat of NR0B1 and SF1 was founded by MLPA .Conclusion Genetic factor is the main cause of childhood primary adrenal insufficiency ,and it is probably caused by adrenal hypoplasia congenita (AHC).The mutation region and type of NR0B1 are probably associated with severity of clinical phenotype .Other X-linked pathogenic genes except AHC may exist ,and cause primary adrenal insufficiency .关键词
原发性肾上腺皮质功能减退症/NR0B1基因/类固醇生成因子-1/基因突变/儿童Key words
Primary adrenal insufficiency/NR0B1/Steroidogenic factor-1/Gene mutation/Children分类
医药卫生引用本文复制引用
孔书美,罗建明..7例儿童原发性肾上腺皮质功能减退症临床特征及NR0B1、类固醇生成因子-1基因突变分析[J].广西医学,2017,39(3):337-341,349,6.基金项目
广西高等学校高水平"创新团队及卓越学者计划"儿童重大疾病的防治研究( 2014091 ) （ 2014091 ）
