Neonatal Diabetes Mellitus in Costa Rica
DOI:
https://doi.org/10.51481/amc.v56i3.848Keywords:
Diabetes neonatal in Costa Rica, transitory neonatal diabetes, permanent neonatal diabetes, IPEX syndromeAbstract
Neonatal diabetes mellitus s a rare metabolic disease that usually develops in the first 6 weeks of life. It is caused by a group of mutations and birth defects in the organogenesis of the pancreas that could be catastrophic if not identified early. It is divided in a transient and a permanent variant, the first one is more frequent as it is related to 60% of cases. The initial treatment in both variants is intensive insulin therapy, but in the transient variant it may be suspended in the first months of life. IPEX syndrome is an extremely rare cause of permanent neonatal diabetes, usually mortal, characterized by severe immunological compromise, enteropathy, diabetes and dermatitis. In this study we describe four cases of NDM diagnosed at the National Children's Hospital in San José, Costa Rica; 2 cases correspond to the transitory variant and 2 to the permanent variant, one of the latter is an IPEX syndrome case.
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References
Polak, M. Neonatal diabetes mellitus: a disease linked to multiple mechanisms. Orphanet J Rare Dis 2007; 2:1750-1172
Shield J, Gardner RJ, Wadsworth EJ. Aetiopathology and genetic basis of neonatal diabetes. Arch Dis Child 1997;76:39-42.
Kalhan SC, Devaskar Su. Neonatal-Perinatal Medicine: Diseases of the Fetus and Infant. 2011. Vol 2, 1497-1508.
Temple I. Transient neonatal diabetes, a disorder of imprinting. J Med Genet 2002;39:872-875.
Chen R, Hussain K, Al-Ali M, Dattani MT, Hindmarsh P, Jones PM et al. Neonatal and Late-Onset Diabetes Mellitus Caused by Failure of Pancreatic Development: Report of 4 More Cases and a Review of the Literature. Pediatrics 2008;121:1541-1547.
Cave H, Polak M, Drunat S, Denamur E, Czernichow P: Refinementof the 6q chromosomal region implicated in transient neonatal diabetes. Diabetes 2000, 49:108-113.
Temple IK, Gardner RJ, MacKay DJG, Barber JCK, Robinson DO, Shield JPH. Transient neonatal diabetes mellitus: widening our understanding of the aetiopathogenesis of diabetes. Diabetes 2000;49:1359-66.
Kamiya M, Judson H, Okazaki Y. The cell cycle control gene ZAC/PLAGL1 is imprinted--a strong candidate gene for transient neonatal diabetes. Hum Mol Genet 2000;9:453.
Von Muhlendahl KE, Herkenhoff H: Long-term course of neonatal diabetes. N Engl J Med 1995, 333:704-708.
Flechtner I. Neonatal hyperglycaemia and abnormal development of the páncreas. 2008. Best Pract Res Clin Endocrinol Metab. 22:1;17-40.
Shield JP, Baum JD: Transient neonatal diabetes and later onsetdiabetes: a case of inherited insulin resistance. Arch Dis Child 1995, 72:56-57.
Greeley S, Tucker S, Naylor R, Bell G, Philipson L. Neonatal diabetes mellitus: A model for personalized medicine. Trends Endocrinol Metab. 2010. 21:464- 472.
Metz C, Cave H, Bertrand AM, Deffert C, Gueguen-Giroux B, Czernichow P, Polak M: Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases. J Pediatr 2002,141:483-489.
Gloyn AL, Pearson ER, Antcliff JF, et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med 2004; 350:1838.
Babenko AP, Polak M, Cavé H. Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. N Engl J Med 2006; 355:456.
Scharfmann R, Polak M. Transcribing neonatal diabetes mellitus. N Engl J Med 2010; 362:1538.
Powell B. Buist N. Stenzel P. An X linked síndrome of diarrea, polyendocrinopathy and fatal infection in infancy. The Journal of Pediatrics, 1982; 100:731-737.
Chatila TA. Role of regulatory T cells in human diseases. J Allergy Clin Immunol 2005; 116:949.
Torgerson TR, Ochs HD. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells. J Allergy Clin Immunol 2007; 120:744.
Hans J. Van der Vliet. Nieuwenhuis E. IPEX as a Result of Mutations in FOXP3. Clin Dev Immunol. 2007;2007:89017:1-5.
Wiedemann B, Schober E, Waldhoer T, Koehle J, Flanagan SE, Mackay DJG et al. Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register. Pediatr Diabetes 2010; 11:18.
Wildin R. Smyk-Pearson S. Filipovich A. Clinical and molecular features of the Immune dysregulation, polyendocrinopathy, enteropathy, X-linked síndrome. J Med Genet., 2002. 39:8 pp 537-545.
Baud O, Goulet O, Canioni D, Le Deist F, Radford I, Rieu D et al. Treatment of the Immune dysregulation, polyendocrinopathy, enteropathy, X-linked síndrome by allogenic bone marrow transplantation. 2001. N Engl J Med 344:23, 1758-1762.
Rao A, Kamani N, Filipovich A, Lee SM, Davies SM, Dalal J et al. Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning, 2007. Blood. 109:383-385.
Ochs HD, Torgerson TR. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked inheritance: model for autoaggression. Adv Exp Med Biol. 2007; 601:27-35.
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