Problems in differential diagnosis of diabetes types

Polskie Archiwum Medycyny Wewnetrznej

Volumn 118, Issue 7-8, 2008, Pages 435-440

  Małecki, Maciej ^a   Skupień, Jan ^a  

^a JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

Author keywords

Diabetes mellitus; Differential diagnosis; Genes

Indexed keywords

INSULIN;

AUTOIMMUNE DISEASE; CLINICAL FEATURE; DIABETES MELLITUS; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; DISEASE COURSE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DRUG MECHANISM; GENE MUTATION; GLUCOSE BLOOD LEVEL; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; INSULIN RESISTANCE; LIPOATROPHIC DIABETES MELLITUS; NON INSULIN DEPENDENT DIABETES MELLITUS; NONHUMAN; PATHOGENESIS; PROGNOSIS; REVIEW; WORLD HEALTH ORGANIZATION;

EID: 49249107690     PISSN: 00323772     EISSN: None     Source Type: Journal    
DOI: 10.20452/pamw.444     Document Type: Review

References (51)

1. World Health Organization: Definition, diagnosis and classification of diabetes mellitus and its complications. Report of a WHO Consultation. Geneva, 1999.
2. Malecki MT, Klupa T. Type 2 diabetes mellitus: from genes to disease. Pharmacol Rep. 2005; 57 (Suppl): 20-32.
3. Atkinson MA, Eisenbarth GS. Type 1 diabetes: new perspectives on disease pathogenesis and treatment. Lancet. 2001; 358: 221-229.
4. Pontiroli AE. Type 2 diabetes mellitus is becoming the most common type of diabetes in school children. Acta Diabetol. 2004; 41: 85-90.
5. Turner R, Stratton I, Horton V, et al. UKPDS 25: autoantibodies to islet-cell cytoplasm and glutamic acid decarboxylase for prediction of insulin requirement in type 2 diabetes. UK Prospective Diabetes Study Group. Lancet. 1997; 350: 1288-1293.
6. Pozzilli R Di Mario U. Autoimmune diabetes not requiring insulin at diagnosis (latent autoimmune diabetes of the adult): definition, characterization, and potential prevention. Diab Care. 2001; 24: 1460-1467.
7. Lorenzen T, Pociot F, Hougaard P, et al. Long-term risk of IDDM in first-degree relatives of patients with IDDM. Diabetologia. 1994; 37: 321-327.
8. Atkinson MA, Maclaren NK, Luchetta R. Insulitis and diabetes in NOD mice reduced by prophylactic insulin therapy. Diabetes. 1990; 39: 933-937.
9. Bertrand S, De Paepe M, Vigeant C, et al. Prevention of adoptive transfer in BB rats by prophylactic insulin treatment. Diabetes. 1992; 41: 1273-1277.
10. Gottlieb PA, Handler ES, Appel MC, et al. Insulin treatment prevents diabetes mellitus but not thyroiditis in RT6-depleted diabetes resistant BB/Wor rats. Diabetologia. 1991, 34: 296-300.
11. Diabetes Prevention Trial-Type 1 Diabetes Study Group: Effects of insulin in relatives of patients with type 1 diabetes mellitus. N Engl J Med. 2002; 346: 1685-1691.
12. Kobayashi T, Nakanishi K, Murase T, et al. Small doses of subcutaneous insulin as a strategy for preventing slowly progressive beta-cell failure in islet cell antibody-positive patients with clinical features of NIDDM. Diabetes. 1996; 45: 622-626.
13. The Diabetes Control and Complications Trial Research Group. Effect of intensive therapy on residual beta-cell function in patients with type 1 diabetes in the diabetes control and complications trial. A randomized, controlled trial. Ann Intern Med. 1998; 128: 517-523.
14. Rowley MJ, Mackay IR, Chen QY, et al. Antibodies to glutamic acid decarboxylase discriminate major types of diabetes mellitus. Diabetes. 1992; 41: 548-551.
15. Palmer JP. What is the best way to predict IDDM? Lancet. 1994; 343: 1377-1378.
16. Falorni A, Ackefors M, Carlberg C, et al. Diagnostic sensitivity of immunodominant epitopes of glutamic acid decarboxylase (GAD65) autoantibodies in childhood IDDM. Diabetologia. 1996; 39: 1091-1098.
17. Kobayashi T, Tamemoto K, Nakanishi K, et al. Immunogenetic and clinical characterization of slowly progressive IDDM. Diab Care. 1993; 16: 780-788.
18. Juneja R, Hirsch IB, Naik RG, et al. Islet cell antibodies and glutamic acid decarboxylase antibodies, but not the clinical phenotype, help to identify type 1(1/2) diabetes in patients presenting with type 2 diabetes. Metabolism. 2001; 50: 1008-1013.
19. Torn C, Landin-Olsson M, Ostman J, et al. Glutamic acid decarboxylase antibodies (GADA) is the most important factor for prediction of insulin therapy within 3 years in young adult diabetic patients not classified as Type 1 diabetes on clinical grounds. Diab Metab Res Rev. 2000; 16: 442-47.
20. Shiba T, Morino Y, Tagawa K, et al. Onset of diabetes with high titer anti-GAD antibody after IFN therapy for chronic hepatitis. Diab Res Clin Pract. 1995; 30: 237-241.
21. Fajans SS, Bell GI, Polonsky KS. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med. 2001; 345: 971-980.
22. Yamagata K, Furuta H, Oda N, et al. Mutations in the hepatocyte nuclear factors-alpha gene in maturity-onset diabetes of the young (MODY1). Nature. 1996; 384: 458-460.
23. Froguel R Vaxillaire M, Sun F, et al. Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus. Nature. 1992; 356: 162-164.
24. Vionnet N, Stoffel M, Takeda J, et al. Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. Nature. 1992; 356: 721-722.
25. Vaxillaire M, Boccio V, Philipi A, et al. A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q. Nat Genet. 1995; 9: 418-423.
26. Yamagata K, Oda N, Kalsaki PJ, et al. Mutations in the hepatocyte nuclear factor-1-alpha gene in maturity-onset diabetes of the young (MODY3). Nature. 1996; 384: 455-457.
27. Stoffers DA, Ferrer J, Clarke WL, et al. Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. Nat Genet. 1997; 17: 138-141.
28. Horikawa Y, Iwasaki N, Hara M, et al Mutation in hepatocyte nuclear factor-1-beta gene (TCF2) associated with MODY. Nat Genet. 1997; 17: 384-385.
29. Malecki MT, Jhala US, Antonellis A, et al. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nat Genet. 1999; 23: 323-328.
30. Velho G, Froguel R Clement K, et al. Primary pancreatic beta-cell secretory defect caused by mutations in glucokinase gene in kindreds of maturity onset diabetes of the young. Lancet. 1992; 340: 444-448.
31. Stride A, Vaxillaire M, Tuomi T, et al. The genetic abnormality in the beta cell determines the response to an oral glucose load. Diabetologia. 2002; 45: 427-435.
32. Menzel R, Kaisaki PJ, Rjasanowski I, et al. A low renal threshold for glucose in diabetic patients with a mutation in the hepatocyte nuclear factor-1 alpha (HNF-1alpha) gene. Diab Med. 1998; 15: 816-820.
33. Malecki MT, Skupien J, Gorczynska-Kosiorz S, et al. Renal malformations may be linked to mutations in the hepatocyte nuclear factor-1 (MODY3) gene. Diab Care. 2005; 28: 2774-2776.
34. Reznik Y, Dao T, Coutant R, et al. Hepatocyte nuclear factor-1 alpha gene inactivation: cosegregation between liver adenomatosis and diabetes phenotypes in two maturity-onset diabetes of the young (MODY)3 families. J Clin Endocrinol Metab. 2004; 89: 1476-1480.
35. Pearson ER, Starkey BJ, Powell RJ, et al. Genetic cause of hyperglycaemia and response to treatment in diabetes. Lancet. 2003; 362: 1275-1281.
36. Lindner TH, Njolstad PR, Horikawa Y, et al. A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1 beta. Hum Mol Genet. 1999; 8: 2001-2008.
37. van den Ouweland JMW, Lemkes HHPJ, Ruitenbeek W, et al. Mutation in mitochondrial tRNA(leu-UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet. 1992; 1: 368-371.
38. Guillausseau P-J, Massin P, Dubois-LaForgue D, et al. Maternally inherited diabetes and deafness: a multicenter study. Ann Intern Med. 2001; 134: 721-728.
39. Goto Y, Nonaka I, Horai S. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature. 1990; 348: 651-653.
40. Malecki MT, Skupien J, Klupa T, et al. Maternally inherited diabetes with deafness and obesity: body weight reduction response to treatment with insulin analogues. Rev Diabet Stud. 2006; 3: 205-207.
41. Massin P, Guillausseau PJ, Vialettes B, et al. Macular pattern dystrophy associated with a mutation of mitochondrial DNA. Am J Ophthalmol. 1995; 120: 247-248.
42. Donohue WL, Uchida I. Leprechaunism: an euphemism for a rare familial disorder. J Pediatr. 1954; 45: 505-519.
43. Rabson SM, Mendenhall EN. Familial hypertrophy of pineal body, hyperplasia of adrenal cortex and diabetes mellitus; report of 3 cases. Am J Clin Pathol. 1956; 26: 283-290.
44. Kahn CR, Flier JS, Bar RS, et al. The syndromes of insulin resistance and acanthosis nigricans. Insulin-receptor disorders in man. N Engl J Med. 1976; 294: 739-745.
45. Cao H, Hegele RA. Nuclear lamin A/C R482O mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet. 2000; 9: 109-112.
46. Barroso I, Gurnell M, Crowley VEF, et al. Dominant negative mutations in human PPAR-gamma associated with severe insulin resistance, diabetes mellitus and hypertension. Nature. 1999; 402: 880-883.
47. Savage DB, Tan GD, Acerini CL, et al. Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma. Diabetes. 2003; 52: 910-917.
48. Gloyn AL, Pearson ER, Antcliff JF, et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med. 2004; 350: 1838-1849.
49. Babenko AR Polak M, Cave H, et al. Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. N Engl J Med. 2006; 355: 456-466.
50. Malecki MT, Skupien J, Klupa T, et al. Transfer to sulphonylurea therapy of adult subjects with permanent neonatal diabetes due to KCNJ11 activating mutations. Evidence for improvement in insulin sensitivity. Diab Care. 2007; 30: 147-149.
51. Mlynarski W, Tarasov Al, Gach A, et al. Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11. Nat Clin Pract Neurol. 2007; 3: 640-645.