title: Persistent hyperinsulinaemic hypoglycaemia of infancy: therapy, clinical outcome and mutational analysis.
abstract: Persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI) is an autosomal recessive disorder characterized by irregular insulin secretion leading to hypoglycaemia. Recently, mutations in the sulphonylurea receptor (SUR) have been described in association with PHHI. We studied clinical symptoms, therapy, long-term outcome and mutational analysis in 14 patients with PHHI. In 8 patients subtotal pancreatectomy was performed whereas 6 responded to conservative treatment with diazoxide. Psychomotor retardation was found in 6 patients, most of them after a delayed diagnosis. A G-to-A point mutation in one allele of the SUR gene was detected by loss of a MspI restriction site in only one patient.
  
  
  CONCLUSIONS
  Early diagnosis and therapy in PHHI is essential to prevent brain damage. In one patient mutational analysis suggested compound heterozygosity for a known and an as yet unidentified mutation in the SUR gene.
authors.affiliation: Division of Metabolic Diseases, University Children's Hospital, Heidelberg, Germany.
authors.forename: T
authors.initials: T
authors.lastname: Meissner
authors.forename: W
authors.initials: W
authors.lastname: Brune
authors.forename: E
authors.initials: E
authors.lastname: Mayatepek
mesh_terms: D018528:ATP-Binding Cassette Transporters; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D006946:Hyperinsulinism / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D007003:Hypoglycemia / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010179:Pancreas / Q000473:pathology; D010180:Pancreatectomy; D015221:Potassium Channels / Q000235:genetics; D024661:Potassium Channels, Inwardly Rectifying; D011955:Receptors, Drug / Q000235:genetics; D064233:Sulfonylurea Receptors; D016896:Treatment Outcome
chemical_list: D018528:ATP-Binding Cassette Transporters; D015221:Potassium Channels; D024661:Potassium Channels, Inwardly Rectifying; D011955:Receptors, Drug; D064233:Sulfonylurea Receptors