Geçici neonatal diyabetes mellitus: bir olgu sunumu

Yıl 2024, Cilt: 17 Sayı: 2, 389 - 393, 01.04.2024

Gülay Sönmez Demir , Didem Yıldırım Çakar , Murat Öcal , Özmert M.a. Özdemir , Selda Ayça Altıncık , Ozan Çetin , Hacer Ergin

https://doi.org/10.31362/patd.1364851

Öz

Neonatal diyabetes mellitus (NDM), yaşamın ilk altı ayında en az iki hafta süren ve insülin tedavisi gerektiren hiperglisemi olarak tanımlanır. Görülme sıklığı 90000-160000 canlı doğumda bir olmasına rağmen ülkemiz gibi akraba evliliklerinin yaygın olduğu toplumlarda görülme sıklığı 1/30000'e kadar çıkmaktadır. NDM geçici (%50-60), kalıcı veya sendromların bir parçası olarak görülebilir. NDM'nin klinik belirtileri intrauterin büyüme geriliği, büyümenin durması, aşırı idrara çıkma, dehidratasyon ve ketoasidozdur.
Prematüre veya düşük doğum ağırlıklı bebeklerde birçok farklı nedene bağlı olarak hiperglisemi gelişebileceğinden tanıda zorluklar ve gecikmeler yaşanabilmektedir. Geçici hipergliseminin diğer nedenleri dışlandıktan sonra kan şekeri yüksekliği 7-10 günden uzun sürüyorsa özellikle kan şekeri 250 mg/dL'nin üzerinde olan bebeklerde NDM'den şüphelenilmesi ve genetik inceleme yapılması önerilir.
Burada postnatal 15. günde inatçı hiperglisemi nedeniyle yenidoğan ünitemize başvuran ve diğer hiperglisemi nedenleri dışlandıktan sonra geçici NDM tanısı alan bir yenidoğan, hastalığın nadir görülmesi nedeniyle sunulmaktadır.

Anahtar Kelimeler

Konjenital, neonatal diyabet, geçici, tanı

Transient neonatal diabetes mellitus: a case report

Öz

Neonatal diabetes mellitus (NDM) is defined as hyperglycemia in the first six months of life for at least two weeks and requiring insulin therapy. Although its incidence is 1 in 90000-160000 live births, its frequency rises to 1/30000 in societies such as our country where consanguineous marriages are common. NDM may be seen as transient (50-60%), permanent or as a part of syndromes. Clinical manifestations of NDM are intrauterine growth retardation, growth cessation, excessive urination, dehydration, and ketoacidosis.
Since hyperglycemia may develop due to many different reasons in premature or low birth weight babies, difficulties and delays may occur in diagnosis. If the high blood glucose level lasts longer than 7-10 days after excluding other causes of transient hyperglycemia, it is recommended to suspect NDM and perform genetic examination, especially in infants with blood glucose above 250 mg/dL.
Herein, a newborn, referred to our neonatal unit due to persistent hyperglycemia on the postnatal 15th day and diagnosed as transient NDM after excluding other causes of hyperglycemia, is presented due to the rarity of the disease.

Anahtar Kelimeler

Congenital, neonatal diabetes mellitus, transient, diagnosis

Kaynakça

• 1. Lemelman MB, Letourneau L, Greeley SAW. Neonatal diabetes mellitus: an update on diagnosis and management. Clin Perinatol 2018;45:41-59. https://doi.org/10.1016/j.clp.2017.10.006
• 2. Pildes RS. Neonatal hyperglycemia. J Pediatr 1986;109:905-907. https://doi.org/10.1016/s0022-3476(86)80725-9
• 3. Hay WW Jr, Rozance PJ. Neonatal hyperglycemia-causes, treatments, and Cautions. J Pediatr 2018;200:6-8. https://doi.org/10.1016/j.jpeds.2018.04.046
• 4. Hemachandra AH, Cowett RC. Neonatal hyperglycemia. Pediatr Rev 1999;20:16-24. https://doi.org/10.1542/pir.20-7-e16 5. Ogilvy Stuart AL, Beardsall K. Management of hyperglycaemia in the preterm infant. Arch Dis Child Fetal Neonatal Ed 2010;95:126-131. https://doi.org/10.1136/adc.2008.154716
• 6. Letourneau LR, Carmody D, Wroblewski K, et al. Diabetes presentation in ınfancy: high risk of diabetic ketoacidosis. Diabetes Care 2017;40:147-148. https://doi.org/10.2337/dc17-1145
• 7. Demirbilek H, Arya VB, Ozbek MN, et al. Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations. Eur J Endocrinol 2015;172:697-705. https://doi.org/10.1530/EJE-14-0852
• 8. Polak M, Cavé H. Neonatal diabetes mellitus: a disease linked to multiple mechanisms. Orphanet J Rare Dis 2007;2:12. https://doi.org/10.1186/1750-1172-2-12
• 9. Garg M, Devaskar SU. Disorders of Carbohydrate Metabolism in the Neonate In: Martin RJ, Fanaroff AA, Walsh MC, ed. Neonatal-Perinatal Medicine: diseases of the fetus and infant 11th ed. St. Louis: Elsevier Mosby, 2020:1584-1610. 10. Tubiana Rufi N. Insulin pump therapy in neonatal diabetes. Endocr Dev 2007;12:67-74. https://doi.org/10.1159/000109606
• 11. Pearson ER, Flechtner I, Njølstad PR, et al. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med 2006;355:467-477. https://doi.org/10.1056/NEJMoa061759
• 12. Rafiq M, Flanagan SE, Patch AM, et al. Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations. Diabetes Care 2008;31:204-209. https://doi.org/10.2337/dc07-1785
• 13. Besser RE, Flanagan SE, Mackay DG, et al. Prematurity and genetic testing for neonatal diabetes. Pediatrics 2016;138:e20153926. https://doi.org/10.1542/peds.2015-3926
• 14. Karges B, Meissner T, Icks A, Kapellen T, Holl RW. Management of diabetes mellitus in infants. Nat Rev Endocrinol 2011;8:201-211. https://doi.org/10.1038/nrendo.2011.204
• 15. Ziegler AG, Hummel M, Schenker M, Bonifacio E. Autoantibody appearance and risk for development of childhood diabetes in offspring of parents with type 1 diabetes: the 2-year analysis of the German BABYDIAB Study. Diabetes 1999;48:460-468. https://doi.org/10.2337/diabetes.48.3.460
• 16. Rubio Cabezas O, Ellard S. Diabetes mellitus in neonates and infants: genetic heterogeneity, clinical approach to diagnosis, and therapeutic options. Horm Res Paediatr 2013;80:137-146. https://doi.org/10.1159/000354219
• 17. Støy J, Steiner DF, Park SY, Ye H, Philipson LH, Bell GI. Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene. Rev Endocr Metab Disord 2010;11:205-215. https://doi.org/10.1007/s11154-010-9151-3
• 18. Beardsall K, Vanhaesebrouck S, Ogilvy Stuart AL, et al. Prevalence and determinants of hyperglycemia in very low birth weight infants: cohort analyses of the NIRTURE study. J Pediatr 2010;157:715-719. https://doi.org/10.1016/j.jpeds.2010.04.032
• 19. Flanagan SE, Patch AM, Mackay DJ, et al. Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes 2007;56:1930-1937. https://doi.org/10.2337/db07-0043
• 20. Shah RP, Spruyt K, Kragie BC, Greeley SA, Msall ME. Visuomotor performance in KCNJ11-related neonatal diabetes is impaired in children with DEND-associated mutations and may be improved by early treatment with sulfonylureas. Diabetes Care 2012;35:2086-2088. https://doi.org/10.2337/dc11-2225