Clinical properties and disease prognosis in cases of glycogen storage disease type 1a and type 1b

Abstract

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 plusmn;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 Turk Arch Ped 2013; 48: 117 22

Keywords

• Child, clinical course, glycogen storage disease type I

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

Öz

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 plusmn;24 ay 5ay 10 yaş olan 16 rsquo;sı erkek 14 rsquo;ü kız 30 glikojen depo hastalığı tip 1 tanılı hastada yapılmıştır Hastaların 27 rsquo;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 rsquo;sinde boy kısalığı 55 6 rsquo;sında osteoporoz 20 rsquo;sinde mikroalbüminüri 16 7 rsquo;sinde proteinüri ve 6 92 rsquo;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.

Anahtar Kelimeler

• Çocuk
• glikojen depo hastalığı tip I
• klinik seyir

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