Therapy for persistent hyperinsulinemic hypoglycemia of infancy. Understanding the responsiveness of β cells to diazoxide and somatostatin

Journal of Clinical Investigation

Volumn 100, Issue 7, 1997, Pages 1888-1893

  Kane, Charlotte ^a   Lindley, Keith J ^b   Johnson, Paul R V ^c   James, R F L ^c   Milla, Peter J ^b   Aynsley Green, Albert ^b   Dunne, Mark J ^a  

^a UNIVERSITY OF SHEFFIELD   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF LEICESTER   (United Kingdom)

Author keywords

Hyperinsulinism; K+ channel; Nesidioblastosis; PHHI; Sulphonylurea

Indexed keywords

DIAZOXIDE; GLUCOSE; INSULIN; OCTREOTIDE; POTASSIUM CHANNEL; POTASSIUM CHANNEL STIMULATING AGENT; SOMATOSTATIN DERIVATIVE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DRUG MECHANISM; DRUG RESISTANCE; GENE MUTATION; HUMAN; HUMAN CELL; HYPERINSULINEMIA; HYPOGLYCEMIA; NEWBORN DISEASE; PANCREAS ISLET BETA CELL; PRIORITY JOURNAL;

EID: 0030955295     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI119718     Document Type: Article

References (23)

1. Aynsley-Green, A. 1981. Nesidioblastosis of the pancreas in infancy. Dev. Med. Child Neurol. 23:372-379.
2. Aynsley-Green, A., J.M. Polak, S.R. Bloom, M.H. Gough, J. Keeling, S.J.H. Ashcroft, R.C. Turner, and J.D. Baum. 1981. Nesidioblastosis of the pancreas: definition of the syndrome and the management of the severe neonatal hyperinsulinemic hypoglycemia. Arch. Dis. Child. 56:496-508.
3. Grant D.B., D.B. Dunger, and E.C. Burns. 1986. Long-term treatment with diazoxide in childhood hyperinsulinism. Acta Endocrinol. Suppl. 279:340-345.
4. Hirsch, H.J., S. Loos, N. Evans, J.F. Crigler, R.M. Piller, and K.H. Gabbay. 1977. Hypoglycemia of infancy and nesidioblastosis. Studies with somatostatin. N. Engl. J. Med. 296:1323-1326.
5. Glaser, B., H.J. Hirsch, and H. Landau. 1993. Persistent hyperinsulinemic hypoglycaemia of infancy: long-term octreotide treatment without pancreatectomy. J. Pediatr. 123:644-650.
6. Dunne, M.J., and O.H. Petersen. 1991. Potassium selective ion channels in insulin-secreting cells: physiology, pharmacology and their role in stimulus secretion coupling. Biochim. Biophys. Acta. 1071:67-82.
7. Spitz, L., R.K. Bhargav, D.B. Grant, and J.V. Leonard. 1992. Surgical treatment of hyperinsulinaemic hypoglycaemia in infancy and childhood. Arch. Dis. Child. 67:201-205.
8. Glaser, B., K.C. Chiu, R. Anker, A. Nestorowicz, H. Landau, H. Ben-Bassat, Z. Sholmai, N. Kaiser, P.S. Thornton, C.A. Stanley, et al. 1994. Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene. Nat. Genet. 7:185-188.
9. Aguilar-Bryan, L., C.G. Nichols, S.W. Wechsler, J.P. Clement IV, A.E. Boyd III, G. Gonzalez, H. Herrera-Sosa, K. Nguy, J. Bryan, and D.A. Nelson. 1995. Cloning of the beta cell high-affinity sulphonylurea receptor: a regulator of insulin secretion. Science (Wash. DC). 268:423-426.
10. Inagaki, N., T. Gonoi, J.P. Clement IV, N. Namba, J. Inazawa, G. Gonzalez, L. Aguilar-Bryan, S. Seino, and J. Bryan. 1995. Reconstitution of IKATP: an inward rectifier subunit plus the sulphonylurea receptor. Science (Wash. DC). 270:1166-1170.
11. Thomas, P.M., G.J. Cote, N. Wohlik, B. Haddad, P.M. Mathew, W. Rabl, L. Aguilar-Bryan, R.F. Gagel, and J. Bryan. 1995. Mutations in the sulphonylurea receptor gene in familial hyperinsulinemic hypoglycemia of infancy. Science (Wash. DC). 268:426-429.
12. Aguilar-Bryan, L., and J. Bryan. 1996. ATP-sensitive potassium channels, sulphonylurea receptors, and persistent hyperinsulinemic hypoglycemia of infancy. Diabetes Rev. 4:336-346.
13. Permutt, M.A., A. Nestorowicz, and B. Glaser. 1996. Familial hyperinsulinism: an inherited disorder of spontaneous hypoglycaemia in infants and neonates. Diabetes Rev. 4:347-355.
14. Dunne, M.J., C. Kane, R.M. Shepherd, J.A. Sanchez, R.F.L. James, P.R.V. Johnson, A. Aynsley-Green, S. Lu, J.P. Clement IV, K.J. Lindley, et al. 1997. Familial persistent hyperinsulinemic hypoglycaemia of infancy and mutations in the sulfonylurea receptor. N. Engl. J. Med. 336:703-706.
15. ATP channels in β-cells causes persistent hyperinsulinaemic hypoglycaemia of infancy. Nat. Med. 2:1344-1347.
16. Sempoux, C., F. Poggi, F. Brunelle, J.M. Saudubray, C. Fekete, and J. Rahier. 1995. Nesidioblastosis and persistent neonatal hyperinsulinism. Diabetes Metab. 21:402-407.
17. Lindley, K.J., M.J. Dunne, C. Kane, R.M. Shepherd, P.E. Squires, R.F.L. James, P.R.V. Johnson, S. Eckhart, E. Wakeling, M. Dattani, et al. 1996. Ionic control of β-cell function in nesidioblastosis. A possible therapeutic role for calcium channel blockade. Arch. Dis. Child. 74:373-378.
18. Pirotte, B., P. De Tullio, P. Lebrun, M.-H. Antoine, J. Fontain, B. Masereel, M. Schynts, L. Dupont, A. Herchuelz, and J. Delarge. 1993. 3-(Alkyl-amino)-4H-pyridol[4,3-e]-1,2,4-thiadiazine 1,1-dioxides as powerful inhibitors of insulin release from rat pancreatic β-cells: a new class of potassium channel openers? J. Med. Chem. 36:3211-3213.
19. Nichols, C.G., S.-L. Shyng, A. Nestorowicz, B. Glaser, J.P. Clement IV, G. Gonzalez, L. Aguilar-Bryan, M.A. Permutt, and J. Bryan. 1996. Adenosine diphosphate as an intracellular regulator of insulin secretion. Science (Wash. DC). 272:1785-1787.
20. Nestorowicz, A., B.A. Wilson, K.P. Schoor, H. Inoue, B. Glaser, H. Landau, C.A. Stanley, P.S. Thornton, J.P. Clement IV, J. Bryan, et al. 1996. Mutations in the sulphonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. Hum. Mol. Genet. 5:1813-1822.
21. Thomas, P.M., N. Wohlik, E. Huang, U. Kuhnle, W. Rabl, R.F. Gagel, and C.J. Cote. 1996. Inactivation of the first nucleotide binding fold of the sulphonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy. Am. J. Hum. Genet. 59:510-518.
22. IR6.2 also leads to familial persistent hyperinsulinemic hypoglycaemia of infancy. Hum. Mol. Genet. 5:1809-1812.
23. Nestorowicz, A., K.P. Schoor, B.A. Wilson, B. Glaser, S. Seino, and M. A. Permutt. 1996. Identification of a nonsense mutation in the β-cell inward rectifier gene, BIR, associated with familial hyperinsulinism. J. Investig. Med. 44 (Abstr.).