PMID: 11912517Mar 26, 2002Paper

Mutations in the sulfonylurea receptor gene in relation to the long-term outcome of persistent hyperinsulinemic hypoglycemia of infancy

Journal of Pediatric Surgery
Tomoaki TaguchiJunko Ono

Abstract

A 95% pancreatectomy has become the mainstay of surgical therapy for patients with persistent hyperinsulinemic hypoglycemia of infancy (PHHI) who did not respond to medical therapy. However, a high incidence of diabetes recently has been reported after a 95% pancreatectomy. Mutations of the SUR1 (sulfonylurea receptor) or Kir 6.2 (inwardly rectifying potassium channel) genes also have been detected in some patients with nesidioblastosis. Six infants underwent a subtotal pancreatectomy (about 80%) for the initial surgical treatment of PHHI between 1 and 6 months of age. The clinical follow-up ranged from 2 years to 23 years (mean, 14 years). Mutations of the SUR1 and Kir 6.2 genes were examined in whole exons by the PCR-SSPC method using DNA extracted from white blood cells. SUR1 mutations were found in 5 of the 6 cases (83.3%), whereas no Kir 6.2 mutations were detected. Four of the 5 cases were found to have hetero-type mutations. These 4 cases and the 1 case without mutation were a pathologically focal type (head, 1; body, 2; tail, 2) and showed euglycemia after the operation. The other case was found to have a homo-type mutation and was pathologically diffuse. This case showed hypoglycemia and required medical treatment for ...Continue Reading

Citations

Mar 24, 2007·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Ristan M GreerAndrew M Cotterill
Jan 13, 2004·Physiological Reviews·Mark J DunneKeith J Lindley
Feb 8, 2006·Journal of Pediatric Endocrinology & Metabolism : JPEM·Mathew Punnachalil Cherian, Mohammad A Abduljabbar

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