先天性类脂质性肾上腺增生症临床及StAR基因突变分析

doi:10.3969/j.issn.10073205.2018.06.016

摘要/Abstract

摘要： ［摘要］〓
〖HTH〗目的〖HTSS〗〖KG*2〗探讨先天性类脂质性肾上腺皮质增生症患儿的临床及类固醇生成急性调控蛋白（steroidogenic acute regulatory protein，StAR）基因突变特点。
〖HTH〗方法〖HTSS〗〖KG*2〗收集2例先天性类脂质性肾上腺皮质增生症患儿临床资料，采集患儿及其父母静脉血2 mL，用二代测序技术对2例患儿44个肾上腺皮质功能减退相关基因的外显子及其相邻内含子进行检测，对所检出的StAR基因突变用sanger测序验证，并对患儿父母StAR基因进行验证分析；对StAR基因突变相关文献进行复习。
〖HTH〗结果〖HTSS〗〖KG*2〗2例患儿均为46XX女性，均为新生儿期发病；以皮肤色素沉着、呕吐、体重不增等肾上腺皮质功能减退症状为主要表现；实验室检查示血低钠高钾、促肾上腺皮质激素显著增高，皮质醇及17羟孕酮降低，睾酮、雄烯二酮、脱氢表雄酮等各雄性激素不高；经皮质激素氢化可的松及9α氟氢可的松替代治疗后生长正常；母妊娠史及患儿出生史、家族史无特殊。StAR基因突变分析显示病例1为c.229G>A（p.Q77X）及c.772G>A（p.Q258X）复合杂合已知致病突变；病例2为c.707_708delAG ins CTT（p.K236Tfs*47）纯合已知致病突变；2例患儿父母均为突变携带者。结合中国已报道13例StAR基因突变患儿，c.772G>A（p.Q258X）突变发生率为53.3%（8/15），c.707_708delAG ins CTT（p.K236Tfs*47）发生率为33.3%（5/15）。
〖HTH〗结论〖HTSS〗〖KG*2〗 17羟孕酮及雄性激素不高的原发性肾上腺皮质功能减退患儿，尤其是女性表型者，应行染色体及StAR基因检测；c.772C>T（p.Q258X）及c.707_708delAG ins CTT（p.K236Tfs*47）突变可能为中国StAR基因突变热点；适当皮质激素替代治疗可使患儿长期生存、生长正常。

关键词: 肾上腺增生, 先天性, StAR基因, 突变

Abstract: ［Abstract］ Objective〖HTSS〗〓To analyze the clinical features and steroidogenic acute regulatory protein （StAR） gene mutation in children with lipoid congenital adrenal hyperplasia.
〖HTH〗〖WTHZ〗Methods〖HTSS〗〓The clinical data of 2 children with lipoid congenital adrenal hyperplasia were collected in detail. Two milliliters venous blood of the children and their parents were collected and the exons and adjacent introns of 44 adrenal cortical dysfunction related genes of the 2 children were detected by second generation sequencing. The detected StAR gene mutation was confirmed by sanger sequencing. The StAR gene of children's parents was verified and analyzed.Literatures related to StAR gene mutation were reviewed.
〖HTH〗〖WTHZ〗Results〖HTSS〗〓Both the 2 cases were 46XX females and neonatal onset. The main symptoms were skin pigmentation, vomiting and no weight gain; Laboratory examination showed hyponatremia and hyperkalemia, elevated adrenocorticotrophic hormone levels, decreased serum cortisol and 17 hydroxyprogesterone and androgens levels. The growth were normal after hydrocortisone and 9αfluorocortisone replacement therapy. There were no special events in the maternal pregnancy history or the childern′s birth history as well as family history. StAR gene analysis showed that case 1 was c.229G>A(p.Q77X ) and c.772G>A(p.Q258X ) compound heterozygous mutation. Case 2 was c.707_708delAG ins CTT（p.K236Tfs*47）homozygous mutation. All are known pathogenic mutations. Both parents were mutated carriers. Together with the reported 13 cases of StAR gene mutation in China, the incidence of c.772G>A（p.Q258X）and c.707_708delAG ins CTT（p.K236Tfs*47）mutation were 53.3%(8/15) and 33.3% (5/15) respectively.
〖HTH〗〖WTHZ〗Conclusion〖HTSS〗〓The chromosome and StAR gene should be detected in patients with primary adrenocortical dysfunction with low 17 hydroxyprogesterone and androgens, especially in female phenotypes. The mutation of c.772G>A( p.Q258X ) and c.707_708delAG ins CTT（p.K236Tfs*47） may be the hot spots of StAR gene mutation in China. Children with lipoid congenital adrenal hyperplasia can survive for a long time and grow normally after appropriate corticosteroid replacement therapy.

Key words: sdrenal hyperplasia, congenital； StAR gene, mutation

皮亚雷，张亚男，崇禾萌，陈潇潇，阎〓雪*. 先天性类脂质性肾上腺增生症临床及StAR基因突变分析[J]. 河北医科大学学报, doi: 10.3969/j.issn.10073205.2018.06.016.

PI Yalei, ZHANG Yanan, CHONG Hemeng, CHEN Xiaoxiao, YAN Xue*. Analysis of clinical features and StAR gene mutation of lipoid congenital adrenal hyperplasia#br#[J]. Journal of Hebei Medical University, doi: 10.3969/j.issn.10073205.2018.06.016.

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[5]	王园园（综述），柳磊（审校）. 小儿先天性心脏病术后容量评估方法#br#[J]. 河北医科大学学报, 2020, 41(3): 350-353.
[6]	赵〓雪，赵英免，王新良，戎赞华，窦志艳. 儿童Gitelman 综合征病例分析#br#[J]. 河北医科大学学报, 2019, 40(8): 972-976.
[7]	周晓辉，郭琼梅，王〓莉，张〓泽，魏砚砚，周长浩*. 盐酸右美托咪定在小儿体外循环心内直视手术快通道麻醉中的应用[J]. 河北医科大学学报, 2018, 38(12): 1447-1450,1454.
[8]	蒋宇亮1,2，李伟聪3，赵子夜4，李白容1，毛旭艳5，宁守斌1*. 中国PeutzJeghers综合征患者STK11基因突变检测及高频突变分析[J]. 河北医科大学学报, 2017, 37(8): 878-881,896.
[9]	霍丽丽，陈祥云，颉朝阳，王艳彬. 全髋关节置换联合骨颗粒骨泥混合植骨治疗成年人髋臼发育不良[J]. 河北医科大学学报, 2017, 38(2): 217-220.
[10]	张学梅1，董〓梅2，赵〓宁1，刘〓辉1，毛轶楠3，周鲲鹏1. 石家庄市210例先天性耳聋青少年耳聋基因检测及分析[J]. 河北医科大学学报, 2016, 37(12): 1448-1450.
[11]	张学梅1，赵〓宁1，董〓梅2，刘〓辉1，毛轶楠3，臧〓雯1 . 60例人工耳蜗植入患者常见耳聋基因检测分析[J]. 河北医科大学学报, 2016, 37(11): 1294-1297.
[12]	张丽,张利宣,张素华,王静,丁芳. LMNA 基因 C.1583C>G 突变致 Emery-Dreifuss 型#br# 肌营养不良 2 个家系心脏受累特点研究[J]. 河北医科大学学报, 2016, 37(1): 5-8,12.
[13]	吕瑛 1,刘召明 2,李红英 1,闫芳 1,王军 1*,张会军 . 体肺分流术在复杂先天性心脏病中的临床应用[J]. 河北医科大学学报, 2016, 37(1): 72-74.
[14]	李岩岩;贺新建. 基层医院超声在胎儿完全型肺静脉异位引流筛查中的应用[J]. , 2015, 36(6): 721-721.
[15]	毕建成;安翠平(综述);李宝全;许顺江(审校). 肉碱缺乏症的研究进展[J]. , 2014, 35(8): 989-989.

先天性类脂质性肾上腺增生症临床及StAR基因突变分析

Analysis of clinical features and StAR gene mutation of lipoid congenital adrenal hyperplasia#br#

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