Neonatal hyperinsulinism

Trends in Endocrinology and Metabolism

Volumn 10, Issue 2, 1999, Pages 55-61

  Glaser, Benjamin ^a   Landau, Heddy ^a   Permutt, M Alan ^b  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b WASHINGTON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DIAZOXIDE; GLUCOSE; INSULIN; OCTREOTIDE;

DIAGNOSTIC TEST; GENE MUTATION; GLUCOSE BLOOD LEVEL; GLUCOSE INFUSION; HUMAN; HYPERINSULINISM; HYPOGLYCEMIA; INTRAVENOUS DRUG ADMINISTRATION; MOLECULAR BIOLOGY; NEWBORN; NON INSULIN DEPENDENT DIABETES MELLITUS; PANCREAS ISLET BETA CELL; PANCREAS RESECTION; PRIORITY JOURNAL; REVIEW;

EID: 0033058356     PISSN: 10432760     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1043-2760(98)00102-7     Document Type: Review

References (47)

1. Glaser B.et al. Familial hyperinsulinism caused by an activating glucokinase mutation. New Engl. J. Med. 338:1998;226-230.
2. Thomas P.M.et al. Mutations in the sulfonylurea receptor gene in familial hyperinsulinemic hypoglycemia of infancy. Science. 268:1995;426-429.
3. Stanley C.A.et al. Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. New Engl. J. Med. 338:1998;1352-1357.
4. Laidlaw G.F. Nesidioblastoma, the islet tumor of the pancreas. Am. J. Pathol. 14:1938;125-134.
5. Nestorowicz A.et al. A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism. Diabetes. 46:1997;1743-1748.
6. Nestorowicz A.et al. Genetic heterogeneity in familial hyperinsulinism. Hum. Mol. Genet. 7:1998;1119-1128.
7. Aynsley-Green A.et al. Nesidioblastosis of the pancreas: definition of the syndrome and the management of the severe neonatal hyperinsulinaemic hypoglycaemia. Arch. Dis. Child. 56:1981;496-508.
8. Landau H.et al. Persistent neonatal hypoglycemia due to hyperinsulinism: medical aspects. Pediatrics. 70:1982;440-446.
9. Goossens A.et al. Diffuse and focal nesidioblastosis. A clinicopathological study of 24 patients with persistent neonatal hyperinsulinemic hypoglycemia. Am. J. Surg. Pathol. 13:1989;766-775.
10. deLonlay P.et al. 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. 100:1997;802-807.
11. Rahier J., Falt K., Muntefering H., Becker K., Gepts W., Falkmer S. The basic structural lesion of persistent neonatal hypoglycaemia with hyperinsulinism: deficiency of pancreatic D cells or hyperactivity of B cells? Diabetologia. 26:1984;282-289.
12. Sempoux C., Poggi F., Brunelle F., Saudubray J., Fekete C., Rahier J. Nesidioblastosis and persistent neonatal hyperinsulinism. Diabetes and Metabolisme. 21:1995;402-407.
13. Dubois J.et al. Hyperinsulinism in children: diagnostic value of pancreatic venous sampling correlated with clinical, pathological and surgical outcome in 25 cases. Pediatr. Radiol. 25:1995;512-516.
14. Shilyansky J., Fisher S., Cutz E., Perlman K., Filler R.M. Is 95% pancreatectomy the procedure of choice for treatment of persistent hyperinsulinemic hypoglycemia of the neonate? J. Pediatr. Surg. 32:1997;342-346.
15. Leibowitz G., Glaser B., Higazi A.A., Salameh M., Cerasi E., Landau H. Hyperinsulinemic hypoglycemia of infancy (nesidioblastosis) in clinical remission: incidence of diabetes mellitus and persistent β-cell dysfunction at long-term follow-up. J. Clin. Endocrinol. Metab. 80:1995;386-392.
16. Glaser B., Hirsch H.J., Landau H. Persistent hyperinsulinemic hypoglycemia of infancy: long-term octreotide treatment without pancreatectomy. J. Pediatr. 123:1993;644-650.
17. Sperling M., Drash A. Evolution of diabetes mellitus from hypoglycemia. Am. J. Dis. Child. 121:1971;5-9.
18. Woo D., Scopes J.W., Polak J.M. Idiopathic hypoglycaemia in sibs with morphological evidence of nesidioblastosis of the pancreas. Arch. Dis. Child. 51:1976;528-531.
19. Schwartz S.S.et al. Familial nesidioblastosis: severe neonatal hypoglycemia in two families. Pediatrics. 95:1979;44-53.
20. Hammersen G., Trefz F.R., Schmidt H. Familial nesidioblastosis. J. Pediatr. 96:1980;778.
21. Mathew P.M.et al. Persistent neonatal hyperinsulinism. Clin. Pediatr. 27:1988;148-151.
22. Moreno L.A., Turck D., Gottrand F., Fabre M., Manouvrier H.S., Farriaux J.P. Familial hyperinsulinism with nesidioblastosis of the pancreas: further evidence for autosomal recessive inheritance. Am. J. Med. Genet. 34:1989;584-586.
23. Glaser B., Phillip M., Carmi R., Lieberman E., Landau H. Persistent hyperinsulinemic hypoglycemia of infancy ('nesidioblastosis'): autosomal recessive inheritance in 7 pedigrees. Am. J. Med. Genet. 37:1990;511-515.
24. Horev Z., Ipp M., Levey P., Daneman D. Familial hyperinsulinism: successful conservative management. J. Pediatr. 119:1991;717-720.
25. Woolf D.A., Leonard J.V., Trembath R.C., Pembrey M.E., Grant D.B. Nesidioblastosis: evidence for autosomal recessive inheritance. Arch. Dis. Child. 66:1991;529-530.
26. Thornton P.S., Sumner A.E., Ruchelli E.D., Spielman R.S., Baker L., Stanley C.A. Familial and sporadic hyperinsulinism: histopathologic findings and segregation analysis support a single autosomal recessive disorder. J. Pediatr. 119:1991;721-724.
27. Bianchi C., Corbella E., Beccaria L., Bolla P., Chiumello G. A case of familial nesidioblastosis: prenatal diagnosis of foetal hyperinsulinism. Acta Paediatr. 81:1992;853-855.
28. Santer R., Hoffmann H., Suttorp M., Simeoni E., Schaub J. Discordance for hyperinsulinemic hypoglycemia in monozygotic twins [letter]. J. Pediatr. 126:1995;1017.
29. Kukuvitis A., Deal C., Arbour L., Polychronakos C. An autosomal dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy, not linked to the sulfonylurea receptor locus. J. Clin. Endocrinol. Metab. 82:1997;1192-1194.
30. Thornton P.S.et al. Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant. J. Pediatr. 132:1998;9-14.
31. Glaser B.et al. Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene. Nat. Genet. 7:1994;185-188.
32. Thomas P.M., Cote G.J., Hallman D.M., Mathew P.M. Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy. Am. J. Hum. Genet. 56:1995;416-421.
33. Aguilar Bryan L.et al. Cloning of the beta cell high-affinity sulfonylurea receptor: a regulator of insulin secretion. Science. 268:1995;423-426.
34. Inagaki N.et al. Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor. Science. 270:1995;1166-1170.
35. 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. 5:1996;1809-1812.
36. Dunne M.J.et al. Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor. New Engl. J. Med. 336:1997;703-706.
37. Kane C.et al. Loss of functional KATP channels in pancreatic beta-cells causes persistent hyperinsulinemic hypoglycemia of infancy. Nat. Med. 2:1996;1344-1347.
38. Nichols C.G.et al. Adenosine diphosphate as an intracellular regulator of insulin secreton. Science. 272:1996;1785-1787.
39. Bryan J., Aguilar-Bryan L. The ABCs of ATP-sensitive potassium channels: more pieces of the puzzle. Curr. Opin. Cell Biol. 9:1997;553-559.
40. Aguilar-Bryan L., Clement J.P.T., Gonzalez G., Kunjilwar K., Babenko A., Bryan J. Toward understanding the assembly and structure of KATP channels. Physiol. Rev. 78:1998;227-245.
41. Clement J.P.T.et al. Association and stoichiometry of K(ATP) channel subunits. Neuron. 18:1997;827-838.
42. Thomas P.M.et al. Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia on infancy. Am. J. Hum. Genet. 59:1996;510-518.
43. Nestorowicz A.et al. Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. Hum. Mol. Genet. 5:1996;1813-1822.
44. Miki T.et al. Abnormalities of pancreatic islets by targeted expression of a dominant-negative Katp channel. Proc. Natl. Acad. Sci. U. S. A. 94:1997;11969-11973.
45. Weinzimer S.A., Stanley C.A., Berry G.T., Yudkoff M., Tuchman M., Thornton P.S. A syndrome of congenital hyperinsulinism and hyperammonemia. J. Pediatr. 130:1997;661-664.
46. 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. 45:1996;957-960.
47. Ryan F.D.et al. Hyperinsulinism: the molecular aetiology of focal disease. Arch. Dis. Child. 79:1998;445-447.