title: Nifedipine in Congenital Hyperinsulinism - A Case Report.
abstract: Congenital hyperinsulinism (CHI) is the commonest cause of persistent hypoglycemia in neonates. Diazoxide is the first-line drug in its treatment, but the more severe cases are usually diazoxide-resistant. Recessive ABCC8 and KCNJ11 mutations are responsible for most (82%) of the severe diazoxide-unresponsive CHI. Oral nifedipine has been effective in isolated cases of CHI. Successful treatment of diazoxide-unresponsive CHI with a combination of octreotide and nifedipine has been reported in a single isolated case so far. We report here a case of diazoxide-resistant CHI due to homozygous ABCC8 nonsense mutation. In this case, hypoglycaemia uncontrolled by pancreatectomy and octreotide alone showed a good response to a combination of nifedipine and octreotide. Octreotide was tapered off by one year age and thereafter the child is euglycaemic on oral nifedipine alone. Continuous glucose monitoring sensor was used as an aid to monitor glycaemic control and was found to be a safe and reliable option reducing the number of needle-pricks in small children.
authors: Park Clinic, Clinic of Paediatrics and Neonatology, Kolkata, India Phone: +91 9831135350 E-mail: pkhawash@gmail.com.
authors: Papiya
authors: P
authors: Khawash
authors: Khalid
authors: K
authors: Hussain
authors: Sarah E
authors: SE
authors: Flanagan
authors: Sudip
authors: S
authors: Chatterjee
authors: Dhananjoy
authors: D
authors: Basak
mesh_terms: D001786:Blood Glucose / Q000032:analysis; D002096:C-Peptide / Q000097:blood; D002121:Calcium Channel Blockers / Q000627:therapeutic use*; D018389:Codon, Nonsense / Q000235:genetics; D044903:Congenital Hyperinsulinism / Q000188:drug therapy* / Q000601:surgery; D003981:Diazoxide / Q000627:therapeutic use; D004232:Diuretics / Q000627:therapeutic use; D004351:Drug Resistance; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007328:Insulin / Q000097:blood; D009543:Nifedipine / Q000627:therapeutic use*; D015282:Octreotide / Q000627:therapeutic use; D010180:Pancreatectomy; D064233:Sulfonylurea Receptors / Q000235:genetics
chemical_list: C577507:ABCC8 protein, human; D001786:Blood Glucose; D002096:C-Peptide; D002121:Calcium Channel Blockers; D018389:Codon, Nonsense; D004232:Diuretics; D007328:Insulin; D064233:Sulfonylurea Receptors; D009543:Nifedipine; D003981:Diazoxide; D015282:Octreotide