« Previous
Next »
Early Human Development
Volume 86, Issue 5
, Pages 287-294
, May 2010
Congenital hyperinsulinism
References
- . Hyperinsulinism in infants and children. Ped Clin North Am. 1997;44:363–374
- . Recent advances in hyperinsulinism and the pathogenesis of diabetes mellitus. Curr Opin Pediatr. 1990;2:758–765
- . Hyperinsulinism in infancy from basic science to clinical disease. Physiol Rev. 2004;84:239–275
- Facial appearance in persistent hyperinsulinemic hypoglycemia. Am J Med Genet. 2002;111:130–133
- Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: a new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose. J Pediatr. 1999;135:379–383
- . Central nervous system hyperexcitability associated with glutamate dehydrogenase gain of function mutations. J Pediatr. 2005;146:388–394
- . Neonatal and infantile hypoglycemia due to insulin excess: new aspects of diagnosis and surgical management. Ann Surg. 1977;185:505–517
- . Diagnosis and management of hyperinsulinaemic hypoglycemia of infancy. Horm Res. 2008;69:2–13
- Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. Diabetes. 2003;52:199–204
- Macrosomia and hyperinsulinaemic hypoglycemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med. 2007;4:e118
- Long-term treatment of persistent hyperinsulinaemic hypoglycemia of infancy with diazoxide: a retrospective review of 77 cases and analysis of efficacy-predicting criteria. Eur J Pediatr. 1998;157:628–633
- . Short- and long-term use of octreotide in the treatment of congenital hyperinsulinism. J Pediatr. 1993;123:637–643
- . Is 95% pancreatectomy the procedure of choice for treatment of persistent hyperinsulinemic hypoglycemia of the neonate?. J Pediatr Surg. 1997;32:342–346
- Clinical features of 52 neonates with hyperinsulinism. N Engl J Med. 1999;340:1169–1175
- Neonatal hyperinsulinemic hypoglycemia: heterogeneity of the syndrome and keys for differential diagnosis. J Clin Endocrinol Metab. 1998;83:1455–1461
- Partial or near-total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycemia: the pathologist's role. Histopathology. 1998;32:15–19
- Diffuse and focal nesidioblastosis. A clinicopathological study of 24 patients with persistent neonatal hyperinsulinemic hypoglycemia. Am J Surg Pathol. 1989;13:766–775
- . The basic structural lesion of persistent neonatal hypoglycemia with hyperinsulinism: deficiency of pancreatic D cells or hyperactivity of B cells?. Diabetologia. 1984;26:282–289
- Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation. J Clin Endocrinol Metab. 2004;90:189
- Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism. J Clin Endocrinol Metab. 2004;89:925–929
- Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography. Diabetes. 2006;55:13–18
- Characterization of hyperinsulinism in infancy assessed with PET and 18F-fluoro-l-DOPA. J Nucl Med. 2005;46:560–566
- Evaluation of (18F)FDOPA PET–CT for surgery in focal congenital hyperinsulinism. J Clin Endocrinol Metab. 2008;93(3):869–875[Epub 2007 Dec 11]
- Functional imaging of the pancreas: the role of [18F]fluoro-l-DOPA PET in the diagnosis of hyperinsulinism of infancy. Endocr Dev. 2007;12:55–66
- Diagnosis and localization of focal congenital hyperinsulinism by 18F-fluorodopa PET scan. J Pediatr. 2007;150:140–145
- Pancreatic venous samplings in infants and children with primary hyperinsulinism. Pediatr Radiol. 1989;19:100–103
- Hyperinsulinism in children: diagnostic value of pancreatic venous sampling correlated with clinical, pathological and surgical outcome in 25 cases. Pediatr Radiol. 1995;25:512–516
- Neonatal hyperinsulinism: clinicopathologic correlation. Hum Pathol. 2007;38:387–399
- Partial elective pancreatectomy is curative in focal form of permanent hyperinsulinemic hypoglycemia in infancy: a report of 45 cases from 1983 to 2000. J Pediatr Surg. 2002;37:155–158
- . The laparoscopic approach toward hyperinsulinism in children. Semin Pediatr Surg. 2007;16:245–251
- Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. J Clin Invest. 1997;100:802–807
- Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. J Clin Invest. 1998;102:1286–1291
- Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science. 1995;268:426–429
- Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. Hum Mol Genet. 1996;5:1813–1822
- . Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. Hum Mol Genet. 1996;5:1809–1812
- A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism. Diabetes. 1997;46:1743–1748
- . A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonyllurea receptor 1. Lancet. 2003;361:301–307
- Familial hyperinsulinism caused by an activating glucokinase mutation. N Engl J Med. 1998;338:226–230
- Hyperinsulinemia and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med. 1998;338:1352–1357
- Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells. Am J Hum Genet. 2007;81:467–474
- A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene. Diabetes. 2004;53:1592–1598
- Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. J Clin Invest. 2001;108:457–465
- Long-term neurodevelopmental outcome in conservatively treated congenital hyperinsulinism. Eur J Endocrinol. 2007;157:491–497
- . Hyperinsulinaemic hypoglycemia: biochemical basis and the importance of maintaining normoglycaemia during management. Arch Dis Child. 2007;92:568–570
- Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia. Pediatrics. 2001;107:476–479
- . Neonatal hypoglycemia and occipital cerebral injury. J Pediatr. 2006;148:552–555
PII: S0378-3782(10)00100-3
doi: 10.1016/j.earlhumdev.2010.05.003
© 2010 Elsevier Ltd. All rights reserved.
« Previous
Next »
Early Human Development
Volume 86, Issue 5
, Pages 287-294
, May 2010
