Neonatal and very-early-onset diabetes mellitus

Seminars in Neonatology

Volumn 9, Issue 1, 2004, Pages 59-65

  Polaka, Michel ^a   Shield, Julian ^b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b Royal Hospital for Children   (United Kingdom)

Author keywords

Genetic mechanisms; Imprinting; Insulin secretion; Insulin therapy; Neonatal diabetes mellitus; Newborns; Pancreatic insufficiency; Cell function

Indexed keywords

GENE PRODUCT; GLUCOKINASE; GLUCOSE; INSULIN; INSULIN PROMOTER FACTOR 1; INSULIN ZINC SUSPENSION; ISOPHANE INSULIN; PROTEIN EIF2AK3; TRANSCRIPTION FACTOR FOXP3; UNCLASSIFIED DRUG;

AUTOSOMAL RECESSIVE DISORDER; CALORIC INTAKE; CHILD GROWTH; DIABETES CONTROL; DIABETES MELLITUS; DISEASE COURSE; ENTERIC FEEDING; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENETIC SUSCEPTIBILITY; GROWTH RETARDATION; HUMAN; INFANT FEEDING; INHERITANCE; INSULIN RELEASE; INSULIN TREATMENT; INTRAUTERINE GROWTH RETARDATION; MATURITY ONSET DIABETES MELLITUS; METABOLISM; NON INSULIN DEPENDENT DIABETES MELLITUS; ONSET AGE; PANCREAS INSUFFICIENCY; PATHOPHYSIOLOGY; PERMANENT NEWBORN DIABETES MELLITUS; POSTNATAL DEVELOPMENT; RELAPSE; REVIEW; SIDE EFFECT; TRANSIENT NEWBORN DIABETES MELLITUS; WOLCOTT RALLISON SYNDROME;

EID: 1642430590     PISSN: 10842756     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1084-2756(03)00064-2     Document Type: Article

References (43)

1. Von Mühlendahl KE, Herkenhoff H. Long-term course of neonatal diabetes. N Engl J Med 1995;333:704-8.
2. Shield JP, Gardner RJ, Wadsworth EJ et al. Aetiopathology and genetic basis of neonatal diabetes. Arch Dis Child 1997;76:39-42.
3. Ferguson AW, Milner RDG. Transient neonatal diabetes mellitus in sibs. Arch Dis Child 1970;45:80-1.
4. Fösel S. Transient and permanent neonatal diabetes. Eur J Pediatr 1999;154:944-8.
5. Shield JPH, Baum JD. Transient neonatal diabetes and later onset diabetes. A case of inherited insulin resistance. Arch Dis Child 1995;72:56-7.
6. Metz C, Cave H, Bertrand AM et al. Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases. J Pediatr 2002;141:483-9.
7. Temple IK, Gardner RJ, MacKay DJG et al. Transient neonatal diabetes mellitus: widening our understanding of the aetiopathogenesis of diabetes. Diabetes 2000;49:1359.
8. Temple IK, James RS, Crolla JA et al. An imprinted gene(s) for diabetes? Nat Genet 1995;9:110-2.
9. Christian SL, Rich BH, Loebl C et al. Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus. J Pediatr 1999;134:42-6.
10. Cave H, Polak M, Drunat S et al. Refinement of the 6q chromosomal region implicated in transient neonatal diabetes. Diabetes 2000;49:108-13.
11. Temple IK, Gardner RJ, Robinson DO et al. Further evidence for an imprinted gene for neonatal diabetes localized to chromosome 6q22-23. Hum Mol Genet 1996;5:1117-21.
12. Gardner RJ, Mackay DJ, Mungall AJ et al. An imprinted locus associated with transient neonatal diabetes mellitus. Hum Mol Genet 2000;9:589-96.
13. Arima T, Drewell RA, Arney KL et al. A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus. Hum Mol Genet 2001;10:1475-83.
14. Marquis E, Le Monnier de Gouville I, Bouvattier C et al. HLA-DRB1 and DQB1 genotypes in patients with insulin-dependent neonatal diabetes mellitus. A study of 13 cases. Tissue Antigens 2000;58:217-22.
15. Iafusco D, Stazi MA, Cotichini R et al. Permanent diabetes mellitus in the first year of life. Diabetologia 2002;45:798-804.
16. Jonnson J, Carlsson L, Edlund T et al. Insulin-promoter-factor 1 is required for pancreas development in mice. Nature 1994;371:606-9.
17. Vaulont S, Vasseur-Cognet M, Kahn A. Glucose regulation of gene transcription. J Biol Chem 2000;275:31555-8.
18. Stoffers DA, Zinkin NT, Stanojevic V et al. Pancreatic agenesis attributable to a single nucleotide deletion in human IPF-1 coding region. Nat Genet 1997;15:106-10.
19. Stoffers DA, Stanojevic V, Habener JF. Insulin promoter factor-1 gene mutation linked to early onset type 2 diabetes mellitus directs expression of dominant negative isoprotein. J Clin Invest 1998;102:232-41.
20. Hani EH, Stoffers DA, Chevre J-C et al. Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset 2 diabetes mellitus. J Clin Invest 1999;104:R41-8.
21. Velho G, Froguel P. Genetic, metabolic and clinical characteristics of maturity onset diabetes of the young. Eur J Endocrinol 1998;138:233-9.
22. Njolstad PR, Oddmund S, Cuesta-Munoz A et al. Permanent neonatal diabetes mellitus due to glucokinase deficiency: an inborn error of the glucose/insulin signaling pathway. N Engl J Med 2001;344:1588-92.
23. Gloyn AL, Ellard S, Shield JP et al. Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes. Diabetologia 2002;45:290.
24. Vaxillaire M, Samson C, Cave H et al. Glucokinase gene mutations are not a common cause of permanent neonatal diabetes in France. Diabetologia 2002;45:454.
25. Peake JE, McCrossin RB, Byrne G et al. X-linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea. Arch Dis Child 1996;74:F195-9.
26. Roberts J, Searle J. Neonatal diabetes mellitus associated with severe diarrhoea, hyperimmunoglobulin E syndrome and absence of islets of Langerhans. Pediatr Pathol Lab Med 1995;15:477-83.
27. Satake N, Nakanishi M, Okano M et al. A Japanese family of X-linked auto-immune enteropathy with haemolytic anaemia and polyendocrinopathy. Eur J Pediatr 1993;152:313-5.
28. Baud O, Goulet O, Canioni D et al. Treatment of the immune dysregulation, poly-endocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation. N Engl J Med 2001;344:1758-62.
29. Bennett CL, Christie J, Ramsdell F et al. The immune dysregulation, poly-endocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat Genet 2001;27:20-1.
30. Brunkow ME, Jeffery EW, Hjerrild KA et al. Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse. Nat Genet 2001;27:68-73.
31. Wolcott CD, Rallison ML. Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia. J Pediatr 1972;80:292-297.
32. Detepine M, Nicolino M, Barrett T et al. EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome. Nat Genet 2000;25:406-9.
33. Harding HP, Zhang Y, Bertolotti A et al. Perk is essential for translational regulation and cell survival during unfolded protein response. Mol Cell 2000;5:897-904.
34. Harding HP, Zeng H, Zhang Y et al. Diabetes mellitus and exocrine pancreatic dysfunction in Perk -/- mice reveals a role for translational control in secretory cell survival. Mol Cell 2001;7:1153-63.
35. Christen HJ, Hanefield F, Duley JA et al. Distinct neurological syndrome in two brothers with hyperuricaemia. Lancet 1992;340:1167-8.
36. Yorifuji T, Matsumura M, Okuno T et al. Hereditary pancreatic hypoplasia, diabetes mellitus, congenital heart disease: a new syndrome? J Med Genet 1994;31:331-3.
37. Hoveyda N, Shield JPH, Garrett C et al. Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of an association in three members of a consanguineous family. J Med Genet 1999;36:700-4.
38. Atouf F, Czernichow P, Scharfmann R. Expression of neuronal traits in pancreatic beta cells. J Biol Chem 1997;272:1929-34.
39. Otonkoski T, Roivainen M, Vaaral O et al. Neonatal type 1 diabetes associated with maternal echovirus 6 infection: a case report. Diabetologia 2000;43:1235-8.
40. Sander M, Neubuser A, Kalamaras J et al. Genetic analysis reveals that PAX6 is required for normal transcription of pancreatic hormones genes and islet devlopment. Genes Dev 1997;11:1662-73.
41. Sosa-Pineda B, Chowdhury K, Torres M et al. The Pax4 gene is essential for differentiation of insulin-producing beta cells in the mammalian pancreas. Nature 1997;386:399-402.
42. Mitamura R, Kimura H, Murakami Y et al. Ultratente insulin treatment of transient neonatal diabetes mellitus. J Pediatr 1996;128:268-70.
43. Lindsay RS, Kobes S, Knowler WC et al. Genome-wide linkage analysis assessing parent-of-origin effects in the inheritance of type 2 diabetes and BMI in Pima Indians. Diabetes 2001;50:2850-7.