The molecular basis of persistent hyperinsulinemic hypoglycemia of infancy and its pathologic substrates

Virchows Archiv

Volumn 436, Issue 1, 2000, Pages 1-5

  Reinecke Lüthge, Axel ^a   Koschoreck, Frank ^a   Klöppel, Günter ^a  

^a UNIVERSITY OF KIEL   (Germany)

Author keywords

Classification; Congenital hyperinsulinism; Molecular basis; Nesidioblastosis; Pancreatic pathology; Persistent hyperinsulinemic hypoglycemia

Indexed keywords

GENETIC DISORDER; GENOTYPE; HYPERINSULINISM; HYPOGLYCEMIA; MOLECULAR GENETICS; PATHOLOGY; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

EID: 0034002601     PISSN: 09456317     EISSN: None     Source Type: Journal    
DOI: 10.1007/PL00008192     Document Type: Review

References (35)

1. 1. Aguilar-Bryan L, Bryan J (1996) ATP-sensitive potassium channels, sulfonylurea receptors, and persistent hyperinsulinemic hypoglycemia of infancy. Diabetes Rev 4:336-346
2. 2. Albers N, Löhr M, Bogner U, Loy V, Klöppel G (1989) Nesidioblastosis of the pancreas in an adult with persistent hyperinsulinemic hypoglycemia. Am J Clin Pathol 91:336-340
3. 3. Aynsley-Green A, Polak JM, Bloom SR, Gough MH, Keeling J, Ashcroft SJ, Turner RC, Baum JD (1981) Nesidioblastosis of the pancreas: definition of the syndrome and the management of the severe neonatal hyperinsulinemic hypoglycemia. Arch Dis Child 56:496-508
4. 4. Aynsley-Green A, Dunne MJ, James RF, Lindley KJ, Docherty K (1999) Persistent hyperinsulinaemic hypoglycaemia of infancy - an enigma only now being unravelled. In: Rabl W, Mohnike K (eds) "Nesidioblastose": Von der molekularen Pathophysiologie zur Therapie. Barth, Heidelberg, pp 55-63
5. 5. Baker L, Stanley CA (1977) Hyperinsulinism in infancy: a pathophysiologic approach to diagnosis and treatment. In: Chiumelo G, Laron Z (eds) Recent progress in pediatric endocrinology. Academic Press, New York, pp 89-100
6. 6. Bordi C, Ravazzola M, Pollak A, Lubec G, Orci L (1982) Neonatal islet cell adenoma: a distinct type of islet cell tumor? Diabetes Care 5:122-125
7. 7. Carney CN (1976) Congenital insulinoma (nesidioblastoma). Ultrastructural evidence for histogenesis from pancreatic ductal epithelium. Arch Pathol Lab Med 100:352-356
8. 8. Dahms BB, Landing BH, Blaskovics M, Roe TF (1980) Nesidioblastosis and other islet cell abnormalities in hyperinsulinemic hypoglycemia of childhood. Hum Pathol 11:641-649
9. 9. De Lonlay P, Fournet JC, Rahier J, Gross-Morand MS, Poggi-Travert F, Foussier V, Bonnefont JP, Brusset MC, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C (1997) 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 100:802-807
10. 10. De Lonlay-Debeney P, Poggi-Travert F, Fournet JC, Sempoux C, Vici CD, Brunelle F, Touati G, Rahier J, Junien C, Nihoul-Fékété C, Robert JJ, Saudubray JM (1999) Clinical features of 52 neonates with hyperinsulinism. N Engl J Med 340:1169-1175
11. 11. Dunne MJ, Kane C, Shepherd RM, Sanchez JA, James RF, Johnson PR, Aynsley-Green A, Lu S, Clement JP, Lindley KJ, Seino S, Aguilar-Bryan L (1997) Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor. N Engl J Med 336:703-706
12. 12. Glaser B, Chiu KC, Anker R, Nestorowicz A, Landau H, Ben-Bassat H, Shlomai Z, Kaiser N, Thornton PS, Stanley CA, Spielman RS, Gogolin-Ewens K, Cerasi E, Baker L, Rice J, Donis-Keller H, Permutt MA (1994) Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene. Nat Genet 7:185-188
13. 13. Glaser B, Kesavan P, Heyman M, Davis E, Cuesta A, Buchs A, Stanley CA, Thornton PS, Permutt MA, Matschinsky FM, Herold KC (1998) Familial hyperinsulinism caused by an activating glucokinase mutation. N Engl J Med 338:226-230
14. 14. Goossens A, Gepts W, Saudubray JM, Bonnefont JP, Nihoul-Fekete C, Heitz PU, Klöppel G (1989) Diffuse and focal nesidioblastosis: A clinicopathological study of 24 patients with persistent neonatal hyperinsulinemic hypoglycemia. Am J Surg Pathol 13:766-775
15. 15. Goossens A, Heitz PU, Klöppel G (1991) Pancreatic endocrine cells and their non-neoplastic proliferations. In: Dayal Y (ed) Endocrine pathology of the gut and pancreas. CRC Press, Boca Raton, pp 69-104
16. 16. Heitz PU, Klöppel G, Häcki WH, Polak JM, Pearse AGE (1977) Nesidioblastosis: the pathologic basis of persistent hyperinsulinemic hypoglycemia in infants. Morphologic and quantitative analysis of seven cases based on specific immunostaining and electron microscopy. Diabetes 26:632-642
17. 17. Hirsch HJ, Loo S, Evans N, Crigler JF, Filler RM, Gabbay KH (1977) Hypoglycemia of infancy and nesidioblastosis. Studies with somatostatin. N Engl J Med 296:1323-1326
18. 18. Jaffe R, Hashida Y, Yunis EJ (1980) Pancreatic pathology in hyperinsulinemic hypoglycemia of infancy. Lab Invest 42: 356-365
19. 19. Klöppel G, Heitz PU (1984) Nesidioblastosis: a clinical entity with heterogeneous lesions of the pancreas. In: Falkmer S, Hakanson R, Sundler F (eds) Evolution and tumour pathology of the neuroendocrine system. Elsevier, Amsterdam New York Oxford, pp 349-370
20. 20. Klöppel G, Altenähr E, Menke B (1975) The ultrastructure of focal islet cell adenomatosis in the newborn with hypoglycemia and hyperinsulinism. Virchows Arch [A] 366:223-236
21. 21. Laidlaw GF (1938) Nesidioblastoma, the islet tumor of the pancreas. Am J Pathol 14:125-134
22. 22. Leibowitz G, Glaser B, Higazi AA, Salameh M, Cerasi E, Landau H (1995) Hyperinsulinemic hypoglycemia of infancy (nesidioblastosis) in clinical remission: high incidence of diabetes mellitus and persistent beta-cell dysfunction at long-term follow-up. J Clin Endocrinol Metab 80:386-392
23. 23. Meissner T, Beinbrech B, Mayatepek E (1999) Congenital hyperinsulinism: molecular basis of a heterogeneous disease. Hum Mutat 13:351-361
24. 24. Nestorowicz A, Inagaki N, Gonoi T, Schoor KP, Wilson BA, Glaser B, Landau H, Stanley CA, Thornton PS, Seino S, Permutt MA (1997) A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism. Diabetes 46:1743-1748
25. 25. Rahier J (1989) Relevance of endocrine pancreas nesidioblastosis to hyperinsulinemic hypoglycemia. Diabetes Care 12: 164-166
26. 26. Rahier J, Fält K, Müntefering H, Becker K, Gepts W, Falkmer S (1984) The basic structural lesion of persistent neonatal hypoglycaemia with hyperinsulinism: deficiency of islet somatostatin cells or hyperactivity of the insulin cells? Diabetologia 26:282-289
27. 27. Rahier J, Sempoux C, Fournet JC, Poggi F, Brunelle F, Nihoul-Fekete C, Saudubray JM, Jaubert F (1998) Partial or near-total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: the pathologist's role. Histopathology 32:15-19
28. 28. Rinker RD, Friday K, Aydin F, Jaffe BM, Lambiase L (1998) Adult nesidioblastosis: a case report and review of the literature. Dig Dis Sci 43:1784-1790
29. 29. Sempoux C, Guiot Y, Dubois D, Nollevaux MC, Saudubray JM, Nihoul-Fekete C, Rahier J (1998) Pancreatic B-cell proliferation in persistent hyperinsulinemic hypoglycemia of infancy: an immunohistochemical study of 18 cases. Mod Pathol 11: 444-449
30. 30. Sherman H (1947) Islet cell tumor of the pancreas in a newborn infant (nesidioblastoma). Am J Dis Child 74:58-79
31. 31. Shilyansky J, Fisher S, Cutz E, Perlman K, Filler RM (1997) Is 95% pancreatectomy the procedure of choice for treatment of persistent hyperinsulinemic hypoglycemia of the neonate? J Pediatr Surg 32:342-346
32. 32. Stanley CA, Baker L (1999) The causes of neonatal hypoglycemia. N Engl J Med 340:1200-1201
33. 33. Stanley CA, Lieu YK, Hsu BY, Burlina AB, Greenberg CR, Hopwood NJ, Perlman K, Rich BH, Zammarchi E, Poncz M (1998) Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med 338:1352-1357
34. 34. Thomas PM, Cote GJ, Wohlik N, Haddad B, Mathew PM, Rabl W, Aguilar-Bryan L, Gagel RF, Bryan J (1995) Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science 268: 426-429
35. 35. Thornton PS, Alter CA, Katz LE, Baker L, Stanley CA (1993) Short-and long-term use of octreotide in the treatment of congenital hyperinsulinism. J Pediatr 123:637-643