Neonatal Diyabetes Mellitus
Özet
Neonatal Diyabetes Mellitus (NDM), genellikle yaşamın ilk altı ayında ortaya çıkan, insülin eksikliği ve hiperglisemi ile karakterize monojenik ve nadir bir hastalıktır. Klinik olarak intrauterin büyüme geriliği, düşük doğum ağırlığı, kilo alamama ve dehidratasyon gibi belirtilerle kendini gösteren bu durum; geçici (%45), kalıcı (%45) ve sendromik (%10) olmak üzere üç ana grupta sınıflandırılır. Hastalığın genetik etiyolojisinde özellikle KATP kanal genleri olan KCNJ11 ve ABCC8 ile INS geni mutasyonları kritik rol oynamaktadır. Erken tanı için yenidoğan dönemindeki semptomatik bebeklerde kan şekeri takibi ve ardından moleküler genetik analizlerin yapılması hayati önem taşır; çünkü altta yatan mutasyonun türü doğrudan tedavi yaklaşımını belirlemektedir. Tedavide geleneksel olarak sürekli subkutan insülin infüzyonu (CSII) tercih edilirken, KCNJ11 veya ABCC8 mutasyonuna sahip hastaların %90'ından fazlasında oral sülfonilüre tedavisine başarılı bir geçiş sağlanabilmekte, bu da hastaların yaşam kalitesini ve glisemik kontrolünü belirgin ölçüde artırmaktadır.
Neonatal Diabetes Mellitus (NDM) is a rare monogenic disorder characterized by insulin deficiency and hyperglycemia, typically presenting within the first six months of life. Clinically manifesting through intrauterine growth restriction, low birth weight, failure to thrive, and dehydration, NDM is classified into three main categories: transient (45%), permanent (45%), and syndromic (10%). Mutations in the KCNJ11, ABCC8, and INS genes play a critical role in the genetic etiology of the disease. For early diagnosis, blood glucose monitoring in symptomatic infants and subsequent molecular genetic analysis are vital, as the specific underlying mutation directly determines the therapeutic approach. While continuous subcutaneous insulin infusion (CSII) is traditionally preferred, more than 90% of patients with KCNJ11 or ABCC8 mutations can successfully transition to oral sulfonylurea therapy, which significantly improves their glycemic control and overall quality of life.
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