Fatma Tuba EMİNOĞLU, Fatih Süheyl EZGÜ, Alev HASANOĞLU, Leyla TÜMER, İlyas OKUR

Glikojen depo tip 1a ve tip 1b olgularında klinik özellikler ve hastalığın seyri

Amaç: Glikojen depo hastalığı tip 1, kan şekeri düzenlenmesinde kilit rol oynayan glukoz-6- fosfataz sisteminde işlev bozukluğu sonucu meydana gelen otozomal çekinik geçişli bir hastalık grubudur. Bu çalışma ile kliniğimizde glikojen depo tip 1 tanısı ile izlenen hastaları, başvuru anındaki yakınmaları, klinik ve laboratuvar bulguları ve uzun dönem komplikasyonları açısından değerlendirmeyi planladık. Gereç ve Yöntem: Çalışma, tanı anında ortalama yaşı 12±24 ay (5ay-10 yaş) olan 16’sı erkek, 14’ü kız 30 glikojen depo hastalığı tip 1 tanılı hastada yapılmıştır. Hastaların 27’si glikojen depo hastalığı tip 1a, üçü glikojen depo hastalığı tip 1b tanısı ile izlenmektedir. Bulgular: Hastalarının tanı anındaki yakınmaları incelendiğinde; sık soluk alıp verme (%93,3) ve karın şişliği (%83,3) nedeniyle başvurunun en yüksek sıklıkta olduğu saptanmıştır. Tanı anında hastaların tümünde karaciğer büyüklüğü saptanmıştır. Laboratuvar değişkenleri arasında hipoglisemi, transaminaz düzeylerinde artış, hipertrigliseridemi, laktik asidoz, hiperürisemi en sık gözlenen bulgulardır. Uzun dönem komplikasyonlar açısından değerlendirildiğinde; hastaların %50’sinde boy kısalığı, %55,6’sında osteoporoz, %20’sinde mikroalbüminüri, %16,7’sinde proteinüri ve %6,92’sinde karaciğer adenomu saptanmıştır. Çıkarımlar: Glikojen depo hastalığı tip 1 nadir görülmesine rağmen hayatı tehdit edebilecek komplikasyonları nedeni ile belirgin karaciğer büyüklüğü ve/veya hipoglisemi varlığında düşünülmesi gereken kalıtsal bir hastalıktır. Erken tanı ve diyet tedavisi ile yeterli metabolik kontrolün sağlanması hem komplikasyonların gelişmesini önleyebilmekte, hem de hastaların yaşam kalitesini artırmaktadır.

Clinical course and outcome of glycogen-storage disease type 1a and type 1b

Aim: To describe the characteristics of patients with type I glycogenosis, the presentation types, the main clinical and laboratory signs, and also the disease outcomes on long term follow-up. Material and Method: 30 patients with glycogen storage disease type I who followed up our clinic were included in these study. The mean age of the patients was 12±24 months (5 month-20 years), and 16 patients were male and 14 were female. Twenty-seven patients were type Ia and three patients were type Ib glycogenosis. Results: The main complaints were acidotic breathing (93.3%), abdominal protruding (83.3%), and main physical finding was hepatomegaly (100%) on admission. Among laboratory parameters, hypoglycemia, increased transaminase values, hypertriglyceridemia, lactic acidosis, hyperuricemia were the most frequent findings. Short stature, osteoporosis, microalbuminuria, proteinuria and liver adenoma were determined in 50%, 20%, 16.7%, 55.6%, 6.92% of patients after the evaluation of patients in terms of long term complications respectively. Conclusions: Glycogen storage disease type I is a rare condition, but with possible life-threatening consequences. It has to be kept in mind whenever severe hepatomegaly and/or hypoglycemia are present. Glycogen storage disease type l causes severe complications unless it is not treated appropriately. Early diagnosis and good metabolic control with dietary therapy may prevent these complications and increase life quality of the patients.

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