Konjenital Hiperinsülinemik Hipoglisemi Tanılı Hastalarda Klinik ve Genetik Özellikler ile Tedavi Sonuçları: Tek Merkez Deneyimi

Year 2020, Volume: 18 Issue: 3, 317 - 335, 18.12.2020

İbrahim Mert Erbaş Gönül Çatlı Ahu Paketçi Ahmet Anık Korcan Demir Ece Böber Ayhan Abacı

Abstract

GİRİŞ ve AMAÇ: Konjenital hiperinsülinemik hipoglisemi, pankreastan kontrolsüz insülin salınımı sonucu ortaya çıkan nadir bir hastalıktır. Bu çalışmada, kliniğimizde konjenital hiperinsülinemik hipoglisemi tanısı ile takip edilen hastaların klinik ve genetik özellikleri ile prognozlarının değerlendirilmesi amaçlanmıştır.

YÖNTEM ve GEREÇLER: Çalışmaya, 2011–2020 yılları arasında kliniğimizde konjenital hiperinsülinemik hipoglisemi tanısı ile takip edilen olgular dahil edildi. Olguların dosya kayıtlarından, klinik, laboratuvar ve genetik özellikleri, görüntüleme sonuçları, tedavi süreçleri ve prognozları ile ilgili bilgiler elde edildi.

BULGULAR: Çalışmaya dahil edilen 10 olgunun (altı kız, dört erkek) ortanca tanı yaşı 25 (3-183) gündü. En sık başvuru nedeni konvülziyon (altı olgu) iken, olguların üçü semptomatik hale gelmeden rutin tarama sırasında saptanan hipoglisemi nedeniyle tanı aldı. Yedi hastaya genetik analiz yapıldı. Analiz yapılan genler (ABCC8, KCNJ11, GLUD1, HNF4A) arasında dört hastada ABCC8 geninde varyant saptandı (iki hasta heterozigot, bir hasta homozigot, bir hasta ise bileşik heterozigot). Yedi hastada diazoksite yanıt alınırken, diazoksit tedavisine yanıt alınamayan üç hastanın tedavisi oktreotid olarak değiştirildi. Bu hastalardan birisinde ABCC8 geninde heterozigot, bir diğerinde ise homozigot varyant saptandı. Altı hasta izlemde (ortanca süre 1,5 yıl) spontan remisyona girdi ve bu olgular geçici konjenital hiperinsülinemik hipoglisemi olarak kabul edildi. ABCC8 geninde varyant saptanan dört hastanın üçü geçici hastalık tanısı aldı.

TARTIŞMA ve SONUÇ: Çalışmamızda konjenital hiperinsülinemik hipoglisemi tanısı ile izlenen olguların büyük çoğunluğu yenidoğan döneminde hipoglisemik konvülziyon ile tanı almıştı ve diazoksite yanıtlıydı. En sık varyasyon, daha önceki yayınlar ile benzer şekilde ABCC8 geninde saptandı.

Keywords

diazoksit,, hiperinsülinizm,, hipoglisemi, nöroglikopenik semptom, KATP kanalı

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