Congenital Hyperinsulinism Due to Compound Heterozygous Mutation in ABCC8 and KCNJ11 GENES: 20 Years Experience of A National Referral Centre

被引：0
|
作者：
Walton-Betancourth, Sandra [1 ]
Shah, Pratik [1 ,2 ]
Flanagan, Sarah [3 ]
Ellard, Sian [3 ]
Guemes, Maria [1 ,2 ]
Gilbert, Clare [1 ]
Silvera, Shavel [1 ]
Hussain, Khalid [1 ,2 ]
机构：
[1] Great Ormond St Hosp Sick Children, London Ctr Paediat Endocrinol, London, England
[2] UCL, Inst Child Hlth, Dev Endocrinol Res Grp, Genet & Genom Med, London, England
[3] Univ Exeter, Inst Biomed & Clin Sci, Sch Med, Exeter, Devon, England
来源：
HORMONE RESEARCH IN PAEDIATRICS | 2016年 / 86卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
P1-P560
引用
收藏
页码：348 / 348
页数：1
相关论文
共 50 条
  • [41] Congenital hyperinsulinism in a neonate due to a rare homozygous autosomal recessive ABCC8 mutation: a case report
    Hryciuk, Julie
    Hauschild, Michael
    Bouthors, Therese
    Roth-Kleiner, Matthias
    SWISS MEDICAL WEEKLY, 2017, 147 : 18S - 18S
  • [42] Effectiveness of Calcium Channel Blocker Nifedipine in Children with Hyperinsulinaemic Hypoglycaemia Due to Genetically Proven Mutations in the ABCC8/KCNJ11/GCK Genes
    Gueemes, Maria
    Shah, Pratik
    Silvera, Shavel
    Morgan, Kate
    Gilbert, Clare
    Hinchey, Louise
    Hussain, Khalid
    HORMONE RESEARCH IN PAEDIATRICS, 2016, 86 : 349 - 349
  • [43] Successful treatment of a newborn with congenital hyperinsulinism having a novel heterozygous mutation in the ABCC8 gene using subtotal pancreatectomy
    Yen, Chi-Feng
    Huang, Chi-Yu
    Chan, Chon-In
    Hsu, Chiung-Hsing
    Wang, Nien-Lu
    Wang, Tao-Yeuan
    Lin, Chiung-Ling
    Ting, Wei-Hsin
    TZU CHI MEDICAL JOURNAL, 2016, 28 (04): : 162 - 165
  • [44] Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation
    Shah, Pratik
    Arya, Ved Bhushan
    Flanagan, Sarah E.
    Morgan, Kate
    Ellard, Sian
    Senniappan, Senthil
    Hussaina, Khalid
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2015, 28 (5-6): : 695 - 699
  • [45] A Boy with Diazoxide Unresponsive Congenital Hyperinsulinism Due to a Homozygous ABCC8 Missense Mutation Previously Reported to Be Dominant
    Galcheva, Sonya
    Iotova, Violeta
    Flanagan, Sarah E.
    Ellard, Sian
    Hattersley, Andrew
    HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 360 - 360
  • [46] Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers
    Stanik, Juraj
    Gasperikova, Daniela
    Paskova, Magdalena
    Barak, Lubomir
    Javorkova, Jana
    Jancova, Emilia
    Ciljakova, Miriam
    Hlava, Peter
    Michalek, Jozef
    Flanagan, Sarah E.
    Pearson, Ewan
    Hattersley, Andrew T.
    Ellard, Sian
    Klimes, Iwar
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2007, 92 (04): : 1276 - 1282
  • [47] Novel Compound Heterozygous Variants of the ABCC8 Gene Warrant Identification of Pancreatic Histology in Infant with Diazoxide-unresponsive Congenital Hyperinsulinism
    Al Balwi, Rana
    Bubshait, Dalal
    Al Nefily, Raed
    Al Ghamdi, Omar
    CHILDREN-BASEL, 2021, 8 (10):
  • [48] An Egyptian case of congenital hyperinsulinism of infancy due to a novel mutation in KCNJ11 encoding Kir6.2 and response to octreotide
    Eman M. Sherif
    Abeer A. Abdelmaksoud
    Nancy S. Elbarbary
    Pål Rasmus Njølstad
    Acta Diabetologica, 2013, 50 : 801 - 805
  • [49] An Egyptian case of congenital hyperinsulinism of infancy due to a novel mutation in KCNJ11 encoding Kir6.2 and response to octreotide
    Sherif, Eman M.
    Abdelmaksoud, Abeer A.
    Elbarbary, Nancy S.
    Njolstad, Pal Rasmus
    ACTA DIABETOLOGICA, 2013, 50 (05) : 801 - 805
  • [50] USE OF LONG-ACTING SOMATOSTATIN ANALOGUE (LANREOTIDE) IN A CHILD WITH CONGENITAL HYPERINSULINISM DUE TO PATERNAL HETEROZYGOUS ABCC8 MUTATION AND A FOCAL LESION IN THE HEAD OF THE PANCREAS.
    Dastamani, Antonia
    Guemes, Maria
    Pitfield, Catherine
    Morgan, Kate
    De Coppi, Paolo
    Dattani, Mehul
    Shah, Pratik
    HORMONE RESEARCH IN PAEDIATRICS, 2017, 88 : 277 - 278
12345