title: An Egyptian case of congenital hyperinsulinism of infancy due to a novel mutation in KCNJ11 encoding Kir6.2 and response to octreotide.
abstract: Congenital hyperinsulinism of infancy (CHI) is a rare heterogeneous disease mostly attributable to mutations in the genes encoding the KATP channel subunits found in pancreatic β-cells. Here, we report a child presenting at day 1 with persistent hyperinsulinemic hypoglycemia and who underwent open laparotomy and subtotal pancreatectomy with resection of tail and body of pancreas at 30 days of age. Normoglycemia was restored by Octreotide that was discontinued when the child was 7-month old. However, 3 months later Octreotide was re-administered as hypoglycemic attacks recurred. On follow-up, the child has adequate glycemic control and is thriving well with no neurodevelopmental morbidity. Genetic analysis revealed the novel mutation c.407G > A [p.R136H] in KCNJ11 encoding Kir6.2, confirming the diffuse form of CHI. This is to our knowledge the first reported Egyptian case of CHI due to a mutation in KCNJ11.
authors.affiliation: Department of Pediatrics, Ain Shams University, Cairo, Egypt.
authors.forename: Eman M
authors.initials: EM
authors.lastname: Sherif
authors.forename: Abeer A
authors.initials: AA
authors.lastname: Abdelmaksoud
authors.forename: Nancy S
authors.initials: NS
authors.lastname: Elbarbary
authors.forename: Pål Rasmus
authors.initials: PR
authors.lastname: Njølstad
mesh_terms: D044903:Congenital Hyperinsulinism / Q000188:drug therapy* / Q000235:genetics* / Q000601:surgery; D004351:Drug Resistance / Q000235:genetics*; D004534:Egypt; D005260:Female; D005765:Gastrointestinal Agents / Q000627:therapeutic use*; D006801:Humans; D007223:Infant; D009154:Mutation; D015282:Octreotide / Q000627:therapeutic use*; D010180:Pancreatectomy; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D000099161:Kcnj11 Channel
chemical_list: D005765:Gastrointestinal Agents; D015282:Octreotide; D024661:Potassium Channels, Inwardly Rectifying; D000099161:Kcnj11 Channel