Congenital hyperinsulinism
https://doi.org/10.14341/probl201056641-47
Abstract
References
1. James C., Kapoor R.R., Ismail D. et al. The genetic basis of congenital hyperinsulinism. J Med Genet 2009;46:289-299.
2. Otonkoski T., Ammala C., Huopio H. et al. A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. Diabetes 1999;48:408-415.
3. De Leon D.D., Stanley C.A. Mechanisms of disease: advances in diagnosis and treatment of hyperinsulinism in neonates. Nat Clin Pract Endocrinol Metab 2007;3:57-68.
4. McQuarrie I. Idiopathic spontaneously occurring hypoglycemia in infants: clinical significance of problem and treatment. AMA Am J Dis Child 1954;87:399-428.
5. Rahier J., Guiot Y., Sempoux C. Persistent hyperinsulinaemic hypoglycaemia of infancy: a heterogeneous syndrome unrelated to nesidioblastosis. Arch Dis Child Fetal Neonatal Ed 2000;82:F108-F112.
6. Kapoor R.R., Flanagan S.E., James C. et al. Hyperinsulinaemic hypoglycaemia. Arch Dis Child 2009;94:450-457.
7. Kapoor R.R., James C., Hussain K. Advances in the diagnosis and management of hyperinsulinemic hypoglycemia. Nat Clin Pract Endocrinol Metab 2009;5:2:101-112.
8. Thomas P., Ye Y., Lightner E. 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.
9. Thomas P.M., Cote G.J., Wohllk N. et al. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science 1995;268:426-429.
10. Nestorowicz A., Inagaki N., Gonoi T. et al. A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism. Diabetes 1997;46:1743-1748.
11. Dunne M.J., Kane C., Shepherd R.M. et al. Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor. N Engl J Med 1997;336:703-706.
12. Flanagan S.E., Clauin S., Bellanneé-Chantelot C. et al. Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat 2009;30:170-180.
13. Pinney S.E., MacMullen C., Becker S. et al. Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. J Clin Inv 2008;118:2877-2886.
14. Zelent D., Najafi H., Odili S. et al. Glucokinase and glucose homeostasis: proven concepts and new ideas. Biochem Soc Trans 2005;33:306-310.
15. Fahien L.A., MacDonald M.J., Kmiotek E.H. et al. Regulation of insulin release by factors that also modify glutamate dehydrogenase. J Biol Chem 1980;263:13610-13614.
16. Weinzimer S.A., Stanley C.A., Berry G.T. et al. A syndrome of congenital hyperinsulinism and hyperammonemia. J Pediat 1997;130:661-664.
17. Zammarchi E., Filippi L., Novembre E., Donati M.A. Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemia. Metabolism 1996;45:957-960.
18. Clayton P.T., Eaton S., Aynsley-Green A. et al. Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. J Clin Inv 2001;108:457-465.
19. Hussain K., Clayton P.T., Krywawych S. et al. Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene. J Pediat 2005;146:706-708.
20. Ryan F., Devaney D., Joyce C. et al. Hyperinsulinism: molecular aetiology of focal disease. Arch Dis Child 1998;79:445-447.
21. Damaj L., le Lorch M., Verkarre V. et al. Chromosome 11p15 Paternal Isodisomy in Focal Forms of Neonatal Hyperinsulinism. J Clin Endocrinol Metab 2008;93:4941-4947.
22. Palladino A.A., Bennett M.J., Stanley C.A. Hyperinsulinism in infancy and childhood: when an insulin level is not always enough. Ann Biol Clin (Paris) 2009;67:3:245-254.
23. Wolfsdorf J.I., Weinstein D.A. Hypoglycemia in Children, Pediatric. 5th Edition. Endocrinology 2007;1:291-327.
24. Hussain K., Hindmarsh P., Aynsley-Green A. Neonates with symptomatic hyperinsulinemic hypoglycemia generate inappropriately low serum cortisol counterregulatory hormonal responses. J Clin Endocrinol Metab 2003;88:9:4342-4347.
25. Hussain K., Adzick N.S., Stanley C.A. et al. The diagnosis of ectopic focal hyperinsulinism of infancy with [ 18 F]-dopa positron emission tomography. J Clin Endocrinol Metab 2006;91:2839-2842.
26. Hussain K., Blankenstein O., De Lonlay P., Christesen H.T. Hyperinsulinaemic hypoglycaemia: biochemical basis and the importance of maintaining normoglycaemia during management. Arch Dis Child 2007;92:568-570.
27. Aynsley-Green A., Hussain K., Hall J. et al. Practical management of hyperinsulinism in infancy. Arch Dis Child Fetal Neonatal 2000;82:98-107.
28. Glaser B., Landau H., Smilovici A., Nesher R. Persistent hyperinsulinaemic hypoglycaemia of infancy: long-term treatment with the somatostatin analogue Sandostatin. Clin Endocrinol (Oxford) 1989;31:71-80.
29. Moens K., Berger V., Ahn J.M. et al. Assessment of the role of interstitial glucagon in the acute glucose secretory responsiveness of in situ pancreatic beta-cells. Diabetes 2002;51:669-675.
30. Greene S.A., Aynsley-Green A., Soltesz G., Baum J.D. Management of secondary diabetes mellitus after pancreatectomy in infancy. Arch Dis Child 1984;59:356-359.
31. De Vroede M., Bax N.M., Brusgaard K. et al. Laparoscopic diagnosis and cure of hyperinsulinism in two cases of focal adenomatous hyperplasia in infancy. Pediatrics 2004;114:e520-e522.
32. Gussinyer M., Clemente M., Cebrián R. et al. Glucose intolerance and diabetes are observed in the long-term follow-up of nonpancreatectomized patients with persistent hyperinsulinemic hypoglycemia of infancy due to mutations in the ABCC8 gene. Diabetes Care 2008;31:6:1257-1259.
33. Mercimek-Mahmutoglu S., Rami B., Feucht M. et al. Long-term follow-up of patients with congenital hyperinsulinism in Austria. J Pediatr Endocrinol Metab 2008;21:6:523-532.
34. Mazor-Aronovitch K., Gillis D., Lobel D. et al. Long-term neurodevelopmental outcome in conservatively treated congenital hyperinsulinism. Eur J Endocrinol 2007;157:4:491-497.
Review
For citations:
Melikian M.A. Congenital hyperinsulinism. Problems of Endocrinology. 2010;56(6):41-47. https://doi.org/10.14341/probl201056641-47
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