NNT基因突变致家族性糖皮质激素缺乏症1例并文献复习  

Familial glucocorticoid deficiency caused by the NNT gene mutation:a case report and literature review

作　　者：程思杰 周巧利 顾威[1] Cheng Sjie;Zhou Qiaoli;Gu Wei(Department of Endocrinology,Children's Hospital Affiliated to Nanjing Medical University,Nanjing 210008,China)

机构地区：[1]南京医科大学附属儿童医院内分泌科,南京210008

出　　处：《中华实用儿科临床杂志》2023年第8期605-607,共3页Chinese Journal of Applied Clinical Pediatrics

摘　　要：回顾性分析2014年11月南京医科大学附属儿童医院内分泌科诊治的1例NNT基因突变致家族性糖皮质激素缺乏症(FGD)患儿的临床资料及诊治过程。患儿,女,1岁5个月,以"皮肤颜色深0.5年"就诊。实验室检查提示皮质醇降低、促肾上腺皮质激素增高,随访过程中患儿出现抽搐和性早熟。全外显子组测序发现患儿NNT基因8号外显子纯合突变c.1054G>A(p.G352R),为新发突变。国内尚未见NNT基因突变患者报道。文献复习发现NNT突变致FGD患儿(共40例)除典型的全身皮肤黏膜色素沉着、低血糖和抽搐表现外,还可合并盐皮质激素缺乏、性早熟、男性性腺发育异常、甲状腺疾病和心脏疾病等。The clinical data,diagnose and treatment of a child with familial glucocorticoid deficiency(FGD)caused by the NNT gene mutation who was treated in the Department of Endocrinology,Children′s Hospital Affiliated to Nanjing Medical University in November 2014 were retrospectively analyzed.The female child with 1 year and 5 months old presented with 6 months of skin pigmentation.Laboratory examinations showed decreased cortisol and increased adrenocorticotropic hormone.During the follow-up period,she developed convulsions and precocious puberty.Whole exome sequencing revealed that the patient carried a homozygous mutation c.1054G>A(p.G352R)in exon 8 of the NNT gene,which was a newly reported gene mutation.Domestic cases of FGD caused by the NNT gene mutation has never been reported yet.Through literature review of a total of 40 reported children with FGD caused by the NNT gene mutation,typical manifestations included skin pigmentation,hypoglycemia and seizures,alongside mineralocorticoid deficiency,precious puberty,abnormal male gonadal development,thyroid diseases and heart diseases.

关 键 词：家族性糖皮质激素缺乏症 NNT基因突变 文献综述 

分 类 号：R725.8[医药卫生—儿科]