Моногенды кант жиабеты. Федеральные клинические рекомендации по диагностике и лечению моногенных форм сахарного диабета у детей и подростков
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25 38. PEARSON ER, LIDDELL WG, SHEPHERD M, CORRALL RJ, HATTERSLEY AT. Sensitivity to sulphonylureas in patients with hepatocyte nuclear factor 1 alpha gene mutations: evidence for pharmacogenetics in diabetes. Diab Med 2000: 17: 543–5. 39. PEARSON ER, STARKEY BJ, POWELL RJ, GRIBBLE FM, CLARK PM, HATTERSLEY AT. Genetic aetiology of hyperglycaemia determines response to treatment in diabetes. Lancet 2003: 362(9392): 1275–1281. 40. BYRNE MM, STURIS J, MENZEL S, YAMAGATA K, FAJANS SS, DRONSFIELD MJ, et al. Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on Chromosome 12. Diabetes 1996: 45: 1503–1510. 41. ISOMAA B, HENRICSSON M, LEHTO M, FORSBLOM C, KARANKO S, SARELIN L, et al. Chronic diabetic complications in patients with MODY3 diabetes. Diabetologia 1998: 41(4): 467–73. 42. PEARSON ER, STARKEY BJ, POWELL RJ, GRIBBLE FM, CLARK PM, HATTERSLEY AT. Genetic cause of hyperglycaemia and response to treatment in diabetes. Lancet 2003: 362(9392): 1275–81. 43. SHEPHERD M, PEARSON ER, HOUGHTON J, SALT G, ELLARD S, HATTERSLEY AT. No deterioration in glycemic control in HNFА1alpha maturityАonset diabetes of the young following transfer from longАterm insulin to sulphonylureas. Diabetes Care 2003: 26(11): 3191–2. 44. TUOMI T, HONKANEN EH, ISOMAA B, SARELIN L, GROOP LC. Improved prandial glucose control with lower risk of hypoglycemia with nateglinide than with glibenclamide in patients with maturityАonset diabetes of the young type 3. Diabetes Care 2006: 29(2): 189–94. 45. PEARSON ER, PRUHOVA S, TACK CJ, JOHANSEN A, CASTLEDEN HA, LUMB PJ, et al. Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection. Diabetologia 2005: 48(5): 878–85. 46. FAJANS SS, BROWN MB. Administration of sulfony lureas can increase glucoseАinduced insulin secretion for decades in patients with maturityАonset diabetes of the young. Diabetes Care 1993: 16(9): 1254–61. 47. STOFFERS DA, FERRER J, CLARKE WL, HABENER JF. EarlyАonset typeАII diabetes mellitus (MODY4) linked to IPF1. Nature Genetics 1997: 17: 138– 139. 48. MALECKI MT, JHALA US, ANTONELLIS A, FIELDS L, DORIA A, ORBAN T, et al. Mutations in NEUROD1 are associated with the development of Type 2 diabetes mellitus. Nature Genetics 1999: 23(3): 323–328. 49. KRISTINSSON SY, THOROLFSDOTTIR ET, TALSETH B, STEINGRIMSSON E, THORSSON AV, HELGASON T, et al. MODY in Iceland is associated with mutations in HNF 1alpha and a novel mutation in NeuroD1. Diabetologia 2001: 44(11): 2098–103. 50. RAEDER H, JOHANSSON S, HOLM PI, HALDORSEN IS, MAS E, SBARRA V, et al. Mutations in the CEL VNTR cause a syndrome of diabetes and panА creatic exocrine dysfunction. Nat Genet 2006: 38(1): 54–62. 51. VELHO G, BLANCHE H, VAXILLAIRE M, BELLANNE CHANTELOT C, PARDINI VC, TIMSIT J, et al. Identifica tion of 14 new glucokinase mutations and description of the clinical profile of 42 MODYА2 families. Diabetologia 1997: 40: 217–224. 52. BARRETT TG, BUNDEY SE, MACLEOD AF. Neurode generation and diabetes: UK nationwide study of Wol fram (DIDMOAD) syndrome. The Lancet 1995: 346: 1458–1463. 53. STROM TM, HORTNAGEL K, HOFMANN S, GEKELER F, SCHARFE C, RABL W, et al. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum Mol Genet 1998: 7(13): 2021–8. 54. INOUE H, TANIZAWA Y, WASSON J, BEHN P, KALIDAS K, BERNALАMIZRACHI E, et al. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet 1998: 20(2): 143–8. 55. HARDY C, KHANIM F, TORRES R, SCOTTАBROWN M, SELLER A, POULTON J, et al. Clinical and Molecular Genetic Analysis of 19 Wolfram Syndrome Kindreds Demonstrating a Wide Spectrum of Mutations in WFS1. Am.J.Hum.Genet. 199965: 1279–1290. 56. LABAY V, RAZ T, BARON D, MANDEL H, WILLIAMS H, BARRETT T, et al. Mutations in SLC19A2 cause thiamineАresponsive megaloblastic anaemia associated with diabetes mellitus and deafness. Nat Genet 1999: 22(3): 300–4. 26 57. OZDEMIR MA, AKCAKUS M, KURTOGLU S, GUNES T, TORUN YA. TRMA syndrome (thiamineАresponsive megaloblastic anemia): a case report and review of the literature. Pediatr Diabetes 2002: 3(4): 205–9. 58. BINGHAM C, HATTERSLEY AT. Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factorА1{beta}. Nephrol Dial TransА plant 2004: 19(11): 2703–2708. 59. BELLANNEАCHANTELOT C, CLAUIN S, CHAUVEAU D, COLLIN P, DAUMONT M, DOUILLARD C, et al. Large genomic rearrangements in the hepatocyte nuclear factorА1beta (TCF2) gene are the most frequent cause of maturityАonset diabetes of the young type 5. Diabetes 2005: 54(11): 3126–32. 60. PEARSON ER, BADMAN MK, LOCKWOOD CR, CLARK PM, ELLARD S, BINGHAM C, et al. Contrasting diabetes phenotypes associated with hepatocyte nuclear factor 1alpha and А1beta mutations. Diabetes Care 2004: 27(5): 1102–7. 61. BELLANNEАCHANTELOT C, CHAUVEAU D, GAUTIER JF, DUBOISАLAFORGUE D, CLAUIN S, BEAUFILS S, et al. Clinical spectrum associated with hepaА tocyte nuclear factorА1beta mutations. Ann Intern Med 2004: 140(7): 510–7. 62. VAN DEN OUWELAND JM, LEMKES HH, RUITENBEEK W, SANDKUIJL LA, DE VIJLDER MF, STRUYVENBERG PA, et al. Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nature Genetics 1992: 1(5): 368–71. 63. OWEN KR, DONOHOE M, ELLARD S, HATTERSLEY AT. Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene. Diabet Med 2003: 20(10): 823–7. 64. PETERSEN KF, ORAL EA, DUFOUR S, BEFROY D, ARIYAN C, YU C, et al. Leptin reverses insulin resistance and hepatic steatosis in patients with severe lipodystrophy. J Clin Invest 2002: 109(10): 1345–50. |