Frequency and genetic spectrum of maturity-onset diabetes of the young (MODY) in southern New Zealand

Journal of Diabetes & Metabolic Disorders

Patrick Manning¹  Barry J Taylor³  Paul Tomlinson³  Debbie Prosser²  Donald R Love⁵  Nicola Patterson³  Benjamin J Wheeler⁴ 

[1] Department of Endocrinology, Dunedin Public Hospital, Dunedin, New Zealand;Diagnostic Genetics, LabPlus, Auckland, New Zealand;Department of Women’s and Children’s Health, University of Otago, Dunedin, New Zealand;Edgar National Centre for Diabetes and Obesity Research, University of Otago, Dunedin, New Zealand;School of Biological Sciences, University of Auckland, Auckland, New Zealand

关键词: Genetics;    Monogenic Diabetes;    Paediatrics;    Diabetes;    MODY;   

Others  :  806802
DOI  :  10.1186/2251-6581-12-46

 received in 2013-04-04, accepted in 2013-07-02,  发布年份 2013

【 摘 要 】

Maturity-Onset Diabetes of the Young (MODY) is a monogenic form of diabetes, consisting of a heterogeneous group of autosomal dominant inherited disorders. Typical onset is in individuals prior to twenty five years, and presentation can mimic type 1 or 2 diabetes. Molecular genetic testing can allow precise identification of the different MODY sub-types. Making a specific diagnosis of MODY can have important implications for the guidance of appropriate treatment, prognosis and genetic counselling.

We present the cases of three children and their families diagnosed with MODY over the past two years. These families highlight the features of three of the more common MODY subtypes, including two with novel mutations, one of which segregates in a kindred that is strongly affected by both MODY and classic autoimmune mediated diabetes. To date, we have identified a prevalence of MODY in the paediatric diabetes population of the lower South Island, New Zealand, of approximately 2.5%. This prevalence, along with increasing access to molecular genetic testing, highlights the importance of consideration of MODY in atypical diabetes presentations in the paediatric/adolescent population.

【 授权许可】

   
2013 Wheeler et al.; licensee BioMed Central Ltd.

【 图 表 】

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【 参考文献 】

• [1]Fajans SS, Bell GI, Polonsky KS: Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med 2001, 345(13):971-80. Epub 2001/09/29
• [2]Nyunt O, Wu JY, McGown IN, Harris M, Huynh T, Leong GM, et al.: Investigating maturity onset diabetes of the young. The Clinical biochemist Reviews / Australian Association of Clinical Biochemists 2009, 30(2):67-74. Epub 2009/07/01
• [3]Shields BM, Hicks S, Shepherd MH, Colclough K, Hattersley AT, Ellard S: Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia 2010, 53(12):2504-8. Epub 2010/05/26
• [4]Thanabalasingham G, Owen KR: Diagnosis and management of maturity onset diabetes of the young (MODY). BMJ 2011, 343:d6044. Epub 2011/10/21
• [5]Velho G, Vaxillaire M, Boccio V, Charpentier G, Froguel P: Diabetes complications in NIDDM kindreds linked to the MODY3 locus on chromosome 12q. Diabetes Care 1996, 19(9):915-9. Epub 1996/09/01
• [6]McDonald TJ, Colclough K, Brown R, Shields B, Shepherd M, Bingley P, et al.: Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes. Diabetic medicine : a journal of the British Diabetic Association 2011, 28(9):1028-33. Epub 2011/03/15
• [7]Galler A, Stange T, Muller G, Nake A, Vogel C, Kapellen T, et al.: 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. Hormone research in paediatrics 2010, 74(4):285-91. Epub 2010/06/03
• [8]Ehtisham S, Hattersley AT, Dunger DB, Barrett TG: British Society for Paediatric E, Diabetes Clinical Trials G. First UK survey of paediatric type 2 diabetes and MODY. Arch Dis Child 2004, 89(6):526-9.
• [9]Awa WL, Schober E, Wiegand S, Herwig J, Meissner T, Schmidt F, et al.: Reclassification of diabetes type in pediatric patients initially classified as type 2 diabetes mellitus: 15 years follow-up using routine data from the German/Austrian DPV database. Diabetes research and clinical practice 2011, 94(3):463-7. Epub 2011/10/01
• [10]Hotu S, Carter B, Watson PD, Cutfield WS, Cundy T: Increasing prevalence of type 2 diabetes in adolescents. Journal of paediatrics and child health 2004, 40(4):201-4. Epub 2004/03/11
• [11]Kropff J, Selwood MP, McCarthy MI, Farmer AJ, Owen KR: Prevalence of monogenic diabetes in young adults: a community-based, cross-sectional study in Oxfordshire UK. Diabetologia 2011, 54(5):1261-3. Epub 2011/02/26