Systematic population screening, using biomarkers and genetic testing, identifies 2.5% of the U.K. pediatricdiabetes population with monogenic diabetes

Diabetes Care

Volumn 39, Issue 11, 2016, Pages 1879-1888

  Shepherd, Maggie ^a,b   Shields, Beverley ^a   Hammersley, Suzanne ^b   Hudson, Michelle ^b   McDonald, Timothy J ^a,b   Colclough, Kevin ^b   Oram, Richard A ^a   Knight, Bridget ^b   Hyde, Christopher ^a   Cox, Julian ^c   Mallam, Katherine ^d   Moudiotis, Christopher ^b   Smith, Rebecca ^e   Fraser, Barbara ^f   Robertson, Simon ^d   Greene, Stephen ^g   Ellard, Sian ^a   Pearson, Ewan R ^g   Hattersley, Andrew T ^a  

^a UNIVERSITY OF EXETER MEDICAL SCHOOL   (United Kingdom)

^b ROYAL DEVON AND EXETER NHS FOUNDATION TRUST   (United Kingdom)

^c NORTHERN DEVON HEALTHCARE NHS TRUST   (United Kingdom)

^d ROYAL CORNWALL HOSPITALS NHS TRUST   (United Kingdom)

^e PLYMOUTH HOSPITALS NHS TRUST   (United Kingdom)

^f TORBAY AND SOUTH DEVON NHS FOUNDATION TRUST   (United Kingdom)

^g UNIVERSITY OF DUNDEE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

C PEPTIDE; CREATININE; GLUTAMATE DECARBOXYLASE ANTIBODY; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HEPATOCYTE NUCLEAR FACTOR 1BETA; HEPATOCYTE NUCLEAR FACTOR 4ALPHA; PANCREAS ISLET CELL ANTIBODY; ABCC8 PROTEIN, HUMAN; AUTOANTIBODY; BIOLOGICAL MARKER; GERMINAL CENTER KINASES; HEPATOCYTE NUCLEAR FACTOR 4; HNF1A PROTEIN, HUMAN; HNF1B PROTEIN, HUMAN; HNF4A PROTEIN, HUMAN; INSR PROTEIN, HUMAN; INSULIN RECEPTOR; LEUKOCYTE ANTIGEN; PROTEIN SERINE THREONINE KINASE; SULFONYLUREA RECEPTOR;

ABCC8 GENE; ADOLESCENT; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; CREATININE URINE LEVEL; FEMALE; GCK GENE; GENE; GENETIC ASSOCIATION; GENETIC SCREENING; HNF1A GENE; HNF1B GENE; HNF4A GENE; HUMAN; INSR GENE; INSULIN DEPENDENT DIABETES MELLITUS; MAJOR CLINICAL STUDY; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; POPULATION RESEARCH; PREVALENCE; PROTEIN URINE LEVEL; UNITED KINGDOM; URINARY C PEPTIDE CREATININE RATIO; URINARY TRACT FUNCTION; CHILD; DIABETES MELLITUS, TYPE 1; DIABETES MELLITUS, TYPE 2; DIFFERENTIAL DIAGNOSIS; DNA SEQUENCE; ENGLAND; GENETICS; IMMUNOLOGY; INFANT; METABOLISM; PRESCHOOL CHILD; SCOTLAND; YOUNG ADULT;

ADOLESCENT; ANTIGENS, CD; AUTOANTIBODIES; BIOMARKERS; C-PEPTIDE; CHILD; CHILD, PRESCHOOL; DIABETES MELLITUS, TYPE 1; DIABETES MELLITUS, TYPE 2; DIAGNOSIS, DIFFERENTIAL; ENGLAND; FEMALE; GENETIC TESTING; HEPATOCYTE NUCLEAR FACTOR 1-ALPHA; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HEPATOCYTE NUCLEAR FACTOR 4; HUMANS; INFANT; MALE; PREVALENCE; PROTEIN-SERINE-THREONINE KINASES; RECEPTOR, INSULIN; SCOTLAND; SEQUENCE ANALYSIS, DNA; SULFONYLUREA RECEPTORS; YOUNG ADULT;

EID: 84994275258     PISSN: 01495992     EISSN: 19355548     Source Type: Journal    
DOI: 10.2337/dc16-0645     Document Type: Article

References (35)

1. Pihoker C, Gilliam LK, Ellard S, et al.; SEARCH for Diabetes in Youth Study Group. Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations inHNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth. J Clin Endocrinol Metab 2013;98:4055-4062
2. Irgens HU,Molnes J, Johansson BB, et al. Prevalence of monogenic diabetes in the populationbased Norwegian Childhood Diabetes Registry. Diabetologia 2013;56:1512-1519
3. Carmody D, Lindauer KL, Naylor RN. Adolescent non-adherence reveals a genetic cause for diabetes. Diabet Med 2015;32:e20-e23
4. Gandica RG, Chung WK, Deng L, Goland R, Gallagher MP. Identifying monogenic diabetes in a pediatric cohort with presumed type 1 diabetes. Pediatr Diabetes 2015;16:227-233
5. Lambert AP, Ellard S, Allen LI, et al. Identifying hepatic nuclear factor 1alpha mutations in children and young adults with a clinical diagnosis of type 1 diabetes. Diabetes Care 2003;26: 333-337
6. Thirumalai A, Holing E, Brown Z, Gilliam LK. A case of hepatocyte nuclear factor-1b (TCF2) maturity onset diabetes of the young misdiagnosed as type 1 diabetes and treated unnecessarily with insulin. J Diabetes 2013;5:462-464
7. Fendler W, Borowiec M, Baranowska-Jazwiecka A, et al. Prevalence of monogenic diabetes amongst Polish children after a nationwide genetic screening campaign. Diabetologia 2012;55:2631-2635
8. Rubio-Cabezas O, Edghill EL, Argente J, Hattersley AT. Testing for monogenic diabetes among children and adolescents with antibodynegative clinically defined type 1 diabetes. Diabet Med 2009;26:1070-1074
9. Murphy R, Ellard S, Hattersley AT. Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. Nat Clin Pract Endocrinol Metab 2008;4:200-213
10. Rubio-Cabezas O, Hattersley AT, Njølstad PR, et al.; International Society for Pediatric and Adolescent Diabetes. ISPAD Clinical Practice Consensus Guidelines 2014. The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes 2014; 15(Suppl. 20):47-64
11. Craig ME, Jefferies C, Dabelea D, Balde N, Seth A, Donaghue KC; International Society for Pediatric and Adolescent Diabetes. ISPAD Clinical Practice Consensus Guidelines 2014. Definition, epidemiology, and classification of diabetes in children and adolescents. Pediatr Diabetes 2014;15(Suppl. 20):4-17
12. Colclough K, Saint-Martin C, Timsit J, Ellard S, Bellanné-Chantelot C. Clinical utility gene card for: maturity-onset diabetes of the young. Eur J Hum Genet. 12 February 2014 [Epub ahead of print]. DOI: 10.1038/ejhg.2014.14
13. Shields BM, Hicks S, Shepherd MH, Colclough K, Hattersley AT, Ellard S. Maturityonset diabetes of the young (MODY): how many cases are we missing? Diabetologia 2010;53: 2504-2508
14. Besser RE, Shepherd MH, McDonald TJ, et al. Urinary C-peptide creatinine ratio is a practical outpatient tool for identifying hepatocyte nuclear factor 1-alpha/hepatocyte nuclear factor 4-alpha maturity-onset diabetes of the young from long-duration type 1 diabetes. Diabetes Care 2011;34:286-291
15. McDonald TJ, Knight BA, Shields BM, Bowman P, Salzmann MB, Hattersley AT. Stability and reproducibility of a single-sample urinary C-peptide/creatinine ratio and its correlation with 24-h urinary C-peptide. Clin Chem 2009;55:2035-2039
16. Besser RE, Ludvigsson J, Jones AG, et al. Urine C-peptide creatinine ratio is a noninvasive alternative to the mixed-meal tolerance test in children and adults with type 1 diabetes. Diabetes Care 2011;34:607-609
17. Besser RE, Shields BM, Hammersley SE, et al. Home urine C-peptide creatinine ratio (UCPCR) testing can identify type 2 and MODY in pediatric diabetes. Pediatr Diabetes 2013;14: 181-188
18. McDonald TJ, Colclough K, Brown R, et al. Islet autoantibodies can discriminate maturityonset diabetes of the young (MODY) from type 1 diabetes. Diabet Med 2011;28:1028-1033
19. Kanakatti Shankar R, Pihoker C, Dolan LM, et al.; SEARCH for Diabetes in Youth Study Group. Permanent neonatal diabetes mellitus: prevalence and genetic diagnosis in the SEARCH for Diabetes in Youth Study. Pediatr Diabetes 2013;14: 174-180
20. Hameed S, Ellard S, Woodhead HJ, et al. Persistently autoantibody negative (PAN) type 1 diabetes mellitus in children. Pediatr Diabetes 2011;12:142-149
21. Wheeler BJ, Patterson N, Love DR, et al. Frequency and genetic spectrum of maturityonset diabetes of the young (MODY) in southern New Zealand. J DiabetesMetab Disord 2013;12: 46
22. Redondo MJ, Rodriguez LM, Escalante M, Smith EO, Balasubramanyam A, Haymond MW. Types of pediatric diabetes mellitus defined by anti-islet autoimmunity and random C-peptide at diagnosis. Pediatr Diabetes 2013; 14:333-340
23. Ehtisham S, Hattersley AT, Dunger DB, Barrett TG; British Society for Paediatric Endocrinology and Diabetes Clinical Trials Group. First UK survey of paediatric type 2 diabetes and MODY. Arch Dis Child 2004;89:526-529
24. Neu A, Feldhahn L, Ehehalt S, Hub R, Ranke MB; DIARY group Baden-Württemberg. Type 2 diabetes mellitus in children and adolescents is still a rare disease in Germany: A populationbased assessment of the prevalence of type 2 diabetes and MODY in patients aged 0-20 years. Pediatr Diabetes 2009;10:468-473
25. Amed S, Dean HJ, Panagiotopoulos C, et al. Type 2 diabetes, medication-induced diabetes, and monogenic diabetes in Canadian children: A prospective national surveillance study. Diabetes Care 2010;33:786-791
26. Galler A, Stange T, Müller G, et al.; Childhood Diabetes Registry in Saxony, Germany. Incidence of childhood diabetes in children aged less than 15 years and its clinical and metabolic characteristics at the time of diagnosis: data from the Childhood Diabetes Registry of Saxony, Germany. Horm Res Paediatr 2010;74: 285-291
27. Schober E, Rami B, Grabert M, et al.; DPVWiss Initiative of the GermanWorking Group for Paediatric Diabetology and. Phenotypical aspects of maturity-onset diabetes of the young (MODY diabetes) in comparison with type 2 diabetes mellitus (T2DM) in children and adolescents: experience from a large multicentre database. Diabet Med 2009;26:466-473
28. Freeman JV, Cole TJ, Chinn S et al. Cross sectional stature and weight reference curves for the UK, 1990. Arch Dis Child 1995;73:17-24
29. Ellard S, Lango Allen H, De Franco E, et al. Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. Diabetologia 2013;56:1958-1963
30. Awa WL, Thon A, Raile K, et al.; DPV-Wiss. Study Group. Genetic and clinical characteristics of patients with HNF1A gene variations from the German-Austrian DPV database. Eur J Endocrinol 2011;164:513-520
31. Health & Social Care Information Centre. National diabetes audit 2011-12 report 1: care processes and treatment targets: CCG and LHG data tables [Internet], 2013. Available from http://www.hscic.gov.uk/searchcatalogue?productid=13129&q=%22National+diabetes+audit%22&sort=Relevance&size=10&page=1#top. Accessed 3 January 2016
32. Diabetes in Scotland. Scottish Diabetes Survey 2014 [Internet], 2014. Available from http://www.diabetesinscotland.org.uk/Publications/SDS2014.pdf. Accessed 3 January 2016
33. Vaziri-Sani F, Delli AJ, Elding-Larsson H, et al. A novel triple mix radiobinding assay for the three ZnT8 (ZnT8-RWQ) autoantibody variants in children with newly diagnosed diabetes. J Immunol Methods 2011;371:25-37
34. Yorifuji T, Fujimaru R, Hosokawa Y, et al. Comprehensive molecular analysis of Japanese patients with pediatric-onset MODYtype diabetes mellitus. Pediatr Diabetes 2012;13:26-32
35. Chambers C, Fouts A, Dong F, et al. Characteristics of maturity onset diabetes of the young in a large diabetes center. Pediatr Diabetes 2016;17:360-367