¿Por qué debemos preocuparnos de diagnosticar una diabetes monogénica?
Tài liệu tham khảo
1997, Report of the Expert Committee on the Diagnosis and Classification of Diabetes Mellitus, Diabetes Care, 20, 1183, 10.2337/diacare.20.7.1183
Fajans, 1960, Tolbutamide-induced improvement in carbohydrate tolerance of young people with mild diabetes mellitus, Diabetes, 9, 83, 10.2337/diab.9.2.83
Fajans, 2011, MODY. History, genetics, pathophysiology, and clinical decision making, Diabetes Care, 34, 1878, 10.2337/dc11-0035
Stoffel, 1996, A yeast artificial chromosome-based map of the region of chromosome 20 containing the diabetes-susceptibility gene, MODY1, and a myeloid leukemia related gene, Proc Natl Acad Sci U S A, 93, 3937, 10.1073/pnas.93.9.3937
1997, An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains, Nat Genet, 17, 399, 10.1038/ng1297-399
Bennett, 2001, The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3, Nat Genet, 27, 20, 10.1038/83713
Rubio-Cabezas, 2009, Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes, Diabetes Care, 32, 111, 10.2337/dc08-1188
Biason-Lauber, 2013, Identification of a SIRT1 mutation in a family with type 1 diabetes, Cell Metab, 17, 448, 10.1016/j.cmet.2013.02.001
Moller, 1991, Insulin resistance — Mechanisms, syndromes, and implications, N Engl J Med, 325, 938, 10.1056/NEJM199109263251307
Kahn, 1976, The syndromes of insulin resistance and acanthosis nigricans. Insulin-receptor disorders in man, N Engl J Med, 294, 739, 10.1056/NEJM197604012941401
Rabson, 1956, Familial hypertrophy of pineal body, hyperplasia of adrenal cortex and diabetes mellitus; report of 3 cases, Am J Clin Pathol, 26, 283, 10.1093/ajcp/26.3.283
Kosztolányi, 1997, Leprechaunism/Donohue syndrome/insulin receptor gene mutations: A syndrome delineation story from clinicopathological description to molecular understanding, Eur J Pediatr, 156, 253, 10.1007/s004310050594
Thanabalasingham, 2011, Diagnosis and management of maturity onset diabetes of the young (MODY), BMJ, 343, d6044, 10.1136/bmj.d6044
Irgens, 2013, Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry, Diabetologia, 56, 1512, 10.1007/s00125-013-2916-y
Edghill, 2006, HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months, Diabetes, 55, 1895, 10.2337/db06-0094
Massa, 2005, KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes, Hum Mutat, 25, 22, 10.1002/humu.20124
Hattersley, 2006, ISPAD Clinical Practice Consensus Guidelines 2006-2007. The diagnosis and management of monogenic diabetes in children, Pediatr Diabetes, 7, 352, 10.1111/j.1399-5448.2006.00217.x
Edghill, 2008, Insulin mutation screening in 1,044 patients with diabetes: Mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood, Diabetes, 57, 1034, 10.2337/db07-1405
Rubio-Cabezas, 2011, Permanent neonatal diabetes mellitus — The importance of diabetes differential diagnosis in neonates and infants, Eur J Clin Invest, 41, 323, 10.1111/j.1365-2362.2010.02409.x
Shield, 2004, An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission, Arch Dis Child Fetal Neonatal Ed, 89, F341, 10.1136/adc.2003.030502
Gloyn, 2004, Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes, N Engl J Med, 350, 1838, 10.1056/NEJMoa032922
McCarthy, 2008, Learning from molecular genetics: Novel insights arising from the definition of genes for monogenic and type 2 diabetes, Diabetes, 57, 2889, 10.2337/db08-0343
Temple, 2010, 6q24 transient neonatal diabetes, Rev Endocr Metab Disord, 11, 199, 10.1007/s11154-010-9150-4
Diatloff-Zito, 2007, Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: New hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical region, J Med Genet, 44, 31, 10.1136/jmg.2006.044404
Aguilar-Bryan, 2008, Neonatal diabetes mellitus, Endocr Rev, 29, 265, 10.1210/er.2007-0029
Flanagan, 2007, Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood, Diabetes, 56, 1930, 10.2337/db07-0043
Thanabalasingham, 2012, Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young, Diabetes Care, 35, 1206, 10.2337/dc11-1243
Osbak, 2009, Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia, Hum Mutat, 30, 1512, 10.1002/humu.21110
Fajans, 2006, Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees, Diabetologia, 49, 1106, 10.1007/s00125-006-0158-y
Iwabuchi, 2013, Japanese boy with maturity-onset diabetes of the young type 3 who developed diabetes at 19 months old, Pediatr Int Off J Jpn Pediatr Soc, 55, e32, 10.1111/j.1442-200X.2012.03741.x
Pruhova, 2013, Two cases of diabetic ketoacidosis in HNF1A-MODY linked to severe dehydration: Is it time to change the diagnostic criteria for MODY?, Diabetes Care, 36, 2573, 10.2337/dc13-0058
Pontoglio, 2000, Hepatocyte nuclear factor1, a transcription factor at the crossroads of glucose homeostasis, J Am Soc Nephrol Jasn, 11, S140, 10.1681/ASN.V11suppl_2s140
Pearson, 2003, Genetic cause of hyperglycaemia and response to treatment in diabetes, Lancet, 362, 1275, 10.1016/S0140-6736(03)14571-0
Pearson, 2007, Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene, Plos Med, 4, e118, 10.1371/journal.pmed.0040118
Stanescu, 2012, Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A, J Clin Endocrinol Metab, 97, E2026, 10.1210/jc.2012-1356
Bellanné-Chantelot, 2004, Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations, Ann Intern Med, 140, 510, 10.7326/0003-4819-140-7-200404060-00009
Yorifuji, 2004, Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism, J Clin Endocrinol Metab, 89, 2905, 10.1210/jc.2003-031828
Bonnefond, 2012, Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene, Plos One, 7, e37423, 10.1371/journal.pone.0037423
Bowman, 2012, Heterozygous ABCC8 mutations are a cause of MODY, Diabetologia, 55, 123, 10.1007/s00125-011-2319-x
Murphy, 2008, Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation, Diabet Med J Br Diabet Assoc, 25, 383, 10.1111/j.1464-5491.2008.02359.x
Soriguer, 2012, Prevalence of diabetes mellitus and impaired glucose regulation in Spain: The [email protected] Study, Diabetologia, 55, 88, 10.1007/s00125-011-2336-9
Thanabalasingham G, Shah N, Vaxillaire M, Hansen T, Tuomi T, Gašperíková D, et al. A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes. Diabetologia. 2011;54:2801-2810.
Besser, 2011, Urinary C-peptide creatinine ratio is a practical outpatient tool for identifying hepatocyte nuclear factor 1α/hepatocyte nuclear factor 4-α maturity-onset diabetes of the young from long-duration type1 diabetes, Diabetes Care, 34, 286, 10.2337/dc10-1293
Thanabalasingham, 2013, Mutations in HNF1A result in marked alterations of plasma glycan profile, Diabetes, 62, 1329, 10.2337/db12-0880
Bonner, 2013, Identification of circulating microRNAs in HNF1A-MODY carriers, Diabetologia, 56, 1743, 10.1007/s00125-013-2939-4
Thanabalasingham, 2013, Atypical phenotype associated with reported GCK exon 10 deletions: Clinical judgement is needed alongside appropriate genetic investigations, Diabet Med, 30, e233, 10.1111/dme.12210