Global perspectives on monogenic forms of diabetes

Iafusco D, Stazi M, Cotichini R et al (2002) Permanent diabetes mellitus in the first year of life. Diabetologia 45(6):798–804. https://doi.org/10.1007/S00125-002-0837-2

Article  CAS  PubMed  Google Scholar 

Edghill EL, Dix RJ, Flanagan SE et al (2006) HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months. Diabetes 55(6):1895–1898. https://doi.org/10.2337/DB06-0094

Article  CAS  PubMed  Google Scholar 

Senarathne UD, De Franco E, Abdelmeguid Y, Lu ZX, Brown J (2020) Permanent neonatal diabetes mellitus. In: Rezaei N (ed) Genetic syndromes: a comprehensive reference guide. Springer International Publishing, Cham, Switzerland, pp 1–7

Google Scholar 

Allen HL, Flanagan SE, Shaw-Smith C et al (2011) GATA6 haploinsufficiency causes pancreatic agenesis in humans. Nat Genet 44(1):20–22. https://doi.org/10.1038/ng.1035

Article  CAS  PubMed  PubMed Central  Google Scholar 

Powell BR, Buist NRM, Stenzel P (1982) An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. J Pediatr 100(5):731–737. https://doi.org/10.1016/S0022-3476(82)80573-8

Article  CAS  PubMed  Google Scholar 

Greeley SAW, Polak M, Njølstad PR et al (2022) ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes 23(8):1188–1211. https://doi.org/10.1111/PEDI.13426

Article  PubMed  Google Scholar 

Barbetti F, Deeb A, Suzuki S (2024) Neonatal diabetes mellitus around the world: update 2024. J Diabetes Investig 15(12). https://doi.org/10.1111/JDI.14312

De Franco E, Flanagan SE, Houghton JAL et al (2015) The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study. Lancet 386(9997):957–963. https://doi.org/10.1016/S0140-6736(15)60098-8

Article  PubMed  PubMed Central  Google Scholar 

Zung A, Glaser B, Nimri R, Zadik Z (2004) Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2. J Clin Endocrinol Metab 89(11):5504–5507. https://doi.org/10.1210/JC.2004-1241

Article  CAS  PubMed  Google Scholar 

Sagen JV, Ræder H, Hathout E et al (2004) Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. Diabetes 53(10):2713–2718. https://doi.org/10.2337/DIABETES.53.10.2713

Article  CAS  PubMed  Google Scholar 

Bowman P, Sulen Å, Barbetti F et al (2018) Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study. Lancet Diabetes Endocrinol 6(8):637–646. https://doi.org/10.1016/S2213-8587(18)30106-2

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pezzotta F, Sarale N, Spacco G et al (2024) Safety and efficacy of using advanced hybrid closed loop off-label in an infant diagnosed with permanent neonatal diabetes mellitus: a case report and a look to the future. Children (Basel) 11(10). https://doi.org/10.3390/CHILDREN11101225

Mlynarski W, Tarasov AI, Gach A et al (2007) Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11. Nat Clin Pract Neurol 3(11):640–645. https://doi.org/10.1038/NCPNEURO0640

Article  CAS  PubMed  Google Scholar 

Campos Franco P, Santos de Santana L, Dantas Costa-Riquetto A, Santomauro Junior AC, Jorge AAL, Gurgel Teles M (2022) Clinical and genetic characterization and long-term evaluation of individuals with maturity-onset diabetes of the young (MODY): the journey towards appropriate treatment. Diabetes Res Clin Pract 187:109875. https://doi.org/10.1016/J.DIABRES.2022.109875

Article  CAS  PubMed  Google Scholar 

Sharp L, Mirshahi L, Colclough K et al (2023) MODY in older onset diabetes is common and identification can improve treatment: analysis of >72,000 people. Diabetologia 66:S96–S97

Google Scholar 

Mcdonald TJ, Colclough K, Brown R et al (2011) Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes. Diabetic Medicine 28(9):1028–1033. https://doi.org/10.1111/J.1464-5491.2011.03287.X

Article  CAS  PubMed  Google Scholar 

Colclough K, Patel K (2022) How do I diagnose maturity onset diabetes of the young in my patients? Clin Endocrinol (Oxf) 97(4):436–447. https://doi.org/10.1111/CEN.14744

Article  PubMed  Google Scholar 

Shields BM, Carlsson A, Patel K et al (2024) Development of a clinical calculator to aid the identification of MODY in pediatric patients at the time of diabetes diagnosis. Sci Rep 14(1):1–9. https://doi.org/10.1038/s41598-024-60160-0

Article  CAS  Google Scholar 

Shields BM, McDonald TJ, Ellard S, Campbell MJ, Hyde C, Hattersley AT (2012) The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes. Diabetologia 55(5):1265–1272. https://doi.org/10.1007/S00125-011-2418-8/TABLES/2

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhang H, Colclough K, Gloyn AL, Pollin TI (2021) Monogenic diabetes: a gateway to precision medicine in diabetes. J Clin Invest 131(3). https://doi.org/10.1172/JCI142244

Delvecchio M, Pastore C, Giordano P (2020) Treatment options for MODY patients: a systematic review of literature. Diabetes Therapy 11(8):1667–1685. https://doi.org/10.1007/S13300-020-00864-4/TABLES/4

Article  PubMed  PubMed Central  Google Scholar 

Shepherd MH, Shields BM, Hudson M et al (2018) A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin. Diabetologia 61(12):2520–2527. https://doi.org/10.1007/S00125-018-4728-6/FIGURES/2

Article  PubMed  PubMed Central  Google Scholar 

Steele AM, Shields BM, Wensley KJ, Colclough K, Ellard S, Hattersley AT (2014) Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia. JAMA 311(3):279–286. https://doi.org/10.1001/JAMA.2013.283980

Article  CAS  PubMed  Google Scholar 

Mateus JC, Rivera C, O’Meara M, Valenzuela A, Lizcano F (2020) Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review. Clin Diabetes Endocrinol 6(1):1–8. https://doi.org/10.1186/S40842-020-00103-6

Article  Google Scholar 

Kleinberger JW, Pollin TI (2015) Undiagnosed MODY: time for action. Curr Diab Rep 15(12):1–11. https://doi.org/10.1007/S11892-015-0681-7/TABLES/1

Article  CAS  Google Scholar 

Al-Khawaga S, Mohammed I, Saraswathi S et al (2019) The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the state of Qatar. Mol Genet Genomic Med 7(10):e00753. https://doi.org/10.1002/MGG3.753

Article  PubMed  PubMed Central  Google Scholar 

Kanakatti Shankar R, Pihoker C, Dolan LM et al (2012) Permanent neonatal diabetes mellitus: prevalence and genetic diagnosis in the SEARCH for diabetes in youth study. Pediatr Diabetes 14(3):174. https://doi.org/10.1111/PEDI.12003

Article  PubMed  Google Scholar 

Hassan SS, Musa SA, De Franco E et al (2024) Incidence, phenotypes, and genotypes of neonatal diabetes: a 16-year experience the rare genetic etiologies of neonatal diabetes are common in Sudan. Pediatr Diabetes 2024(1):2032425. https://doi.org/10.1155/2024/2032425

Article  PubMed  PubMed Central  Google Scholar 

Ben-Omran T, Al Ghanim K, Yavarna T et al (2019) Effects of consanguinity in a cohort of subjects with certain genetic disorders in Qatar. Mol Genet Genomic Med 8(1):e1051. https://doi.org/10.1002/MGG3.1051

Article  PubMed  PubMed Central  Google Scholar 

Rubio-Cabezas O, Patch AM, Minton JAL et al (2009) Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families. J Clin Endocrinol Metab 94(11):4162–4170. https://doi.org/10.1210/JC.2009-1137

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rapini N, Delvecchio M, Mucciolo M et al (2024) The changing landscape of neonatal diabetes mellitus in Italy between 2003 and 2022. J Clin Endocrinol Metab 109(9):2349–2357. https://doi.org/10.1210/CLINEM/DGAE095

Article  CAS  PubMed  PubMed Central 

Comments (0)

No login
gif