hrp0084p1-103 | Perinatal | ESPE2015

Molecular Characterization of a Novel Non-stop KCNJ11 Mutation Associated with a Dual Focal and Diffuse Hyperinsulinaemic Hypoglycaemia Phenotype

Arya Ved Bhushan , Aziz Qadeer , Flanagan Sarah E , Ellard Sian , Tinker Andrew , Hussain Khalid

Background: Hyperinsulinaemic hypoglycaemia (HH) has two main histological subtypes: diffuse and focal. Diffuse HH are most commonly due to recessive or dominant ABCC8/KCNJ11 mutations. Focal HH results due to somatic loss of the maternal 11p allele involving the ABCC8 and KCNJ11 region in patients with paternally inherited ABCC8 or KCNJ11 mutation.Aim: To molecular characterise a novel non-stop KCNJ11</em...

hrp0084fc9.4 | Beta cell disorders | ESPE2015

Novel Molecular Mechanisms of Congenital Hyperinsulinism due to Autosomal Dominant Mutations in ABCC8

Nessa Azizun , Aziz Qadeer , Thomas Alison , Harmer Stephen , Flanagan Sarah , Ellard Sian , Kapoor Ritika , Tinker Andrew , Hussain Khalid

Background: Dominant mutations in ABCC8 can cause congenital hyperinsulinism (CHI), which is characterised by unregulated insulin secretion.Objective and hypotheses: To understand the molecular basis of medically unresponsive CHI due to dominant ABCC8 mutations.Method: We investigated ten patients with diazoxide unresponsive CHI who required a near total pancreatectomy. DNA sequencing revealed seven dominant heter...

hrp0084p2-486 | Hypo | ESPE2015

Transient Hyperinsulinaemic Hypoglycaemia in Association with a Novel ABCC8 Mutation: Expanding the Clinical Phenotypes

Arya Ved Bhushan , Aziz Qadeer , Mohamed Zainaba , Flanagan Sarah E. , Ellard Sian , Ehtisham Sarah , Tinker Andrew , Hussain Khalid

Background: Hyperinsulinaemic hypoglycaemia (HH) can be transient or permanent. Transient HH (spontaneous resolution of HH within few weeks) is associated with intrauterine growth restriction, maternal diabetes, erythroblastosis fetalis etc. Transient HH has not been reported with ABCC8/KCNJ11 mutations, which are the commonest cause of HH.Aim: Molecular characterisation of a novel ABCC8 mutation associated with a transient HH phenotype seen in a family ...