【摘 要】
：
Congenital hyperinsulinism (CHI) is a severe heterogeneous disorder due to dysregulation of insulin secretion from the pancreatic β-cells leading to severe hypoglycemia in the neonatal, infancy and ch
【机 构】
：
Department of genetics and endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou
论文部分内容阅读
Congenital hyperinsulinism (CHI) is a severe heterogeneous disorder due to dysregulation of insulin secretion from the pancreatic β-cells leading to severe hypoglycemia in the neonatal, infancy and childhood periods.Here we report a Chinese boy with CHI unresponsive to medical therapy with diazoxide.Genetic analysis identified a novel compound heterozygous mutation in ABCC8 genes.Compound heterozygous mutations in CHI result in complex phenotype.The novel mutation and phenotype correlation is described.Imaging with 18F-DOPA-PET/CT indicated a focal lesion in the head of the pancreas.The pathological diagnosis was an atypical form.18F-DOPA-PET/ CT is a useful tool in distinguishing between focal and diffuse disease preoperatively but the accuracy is not 100%.The scan result is best combined with genetic analysis and intra-operative biopsy.The report may provide new insights of genotype-phenotype correlations and management of CHI.
其他文献
Mendelian disease is still the major genetic disorders happen in China, especially in the rural regions.But there is still not much prevalence data regarding many single-gene disorders in Guizhou Prov
Background: AIdosterone synthase deficiency (ASD) is a rare autosomal recessive inherited disease.Mutations in the CYP11B2 gene are responsible for the occurrence of ASD.
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by hamartomas in multiple organ systems.It is caused by inactivating mutations in either the TSC1 or TSC2 gene.
性腺发育不良(Disorders of sex development,DSD)是性决定与性分化过程中出现异常的一类疾病,该类疾病仅通过生化激素水平鉴别有时较困难,从遗传学角度检测病因可为DSD的临床诊治提供指导及依据.目的：在DSD病人中通过二代测序对80个DSD相关基因进行检测,并探究遗传学病因.方法：利用Ampliseq技术构建涵盖80个DSD基因外显子区域(覆盖率95％)的文库并在Ion
Background: Uniparental disomy (UPD) is to describe the abnormal situation that both copies of one chromosome pair are inherited from only one parent.UPDs lead to clinical abnormalities through affect
目的：对遗传性先天性无虹膜(Hereditary congenital aniridia)家系患者PAX6基因exon 13 C.957-960delCA突变进行检测,为该家系成员产前诊断提供了科学依据.方法：通过高效变性液相色谱(denaturing high performance liquid chromatography,DHPLC)技术检测短串联重复序列(short tandem rep
Turner syndrome (TS) is a heterogenous genetic disorder caused by X-chromosomal structural abnormalities that affects in about 1 of 2500 females.The affected individuals may develop diverse clinical f
目的：Alport综合征(Alport syndrome,AS)是一种遗传性肾病,以血尿,进行性肾功能衰竭,感音神经性耳聋和眼部异常为主要特征,其致病基因是分别编码Ⅳ型胶原α3,α4和α5链的COL4A3,COL4A4和COL4A5基因. Ⅳ型胶原是肾小球基底膜的主要成分,因此上述基因的突变,均可影响Ⅳ型胶原的折叠、分泌及基质形成等分子生物学功能,从而引起AS.方法：我们利用Ion Amplise
The CGG expansion (5~55) of FMR1 (fragile X mental retardation 1) gene was traditional defined as normal range.Actually, different expanded alleles might be associated with a quantity of phenotypic di
Objective: To examine whether sperm DNA fragmentation has the predictive value for ART outcomes of IVF/ICSI.Methods: An exhaustive electronic literature search was conducted on PubMed, Embase and CNKI