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- Title
Glikojen depo tip 1a ve tip 1b olgular.
- Authors
Tuba Eminoğlu, Fatma; Tümer, Leyla; Okur, İlyas; Süheyl Ezgü, Fatih; Hasanoğlu, Alev
- 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±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.
- Subjects
GLYCOGEN storage disease type I; DESCRIPTIVE statistics; SYMPTOMS; PROGNOSIS
- Publication
Türk Pediatri Arşivi, 2013, Vol 48, Issue 2, p117
- ISSN
1306-0015
- Publication type
Article
- DOI
10.4274/tpa.185