Clinical, Biochemical and Molecular Characterization of a Cohort of Glycogen Storage Disease Type I Patients in a High Complexity Hospital in Argentina
| العنوان: | Clinical, Biochemical and Molecular Characterization of a Cohort of Glycogen Storage Disease Type I Patients in a High Complexity Hospital in Argentina |
|---|---|
| المؤلفون: | María Martinez, Verónica Bindi, Carolina Crespo, Luisa Bay, Hernán Eiroa |
| المصدر: | Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021) Journal of Inborn Errors of Metabolism and Screening v.9 2021 Journal of Inborn Errors of Metabolism and Screening Instituto Genética para Todos (IGPT) instacron:IGPT |
| بيانات النشر: | SciELO, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | medicine.medical_specialty, Medicine (General), Complications, Endocrinology, Diabetes and Metabolism, growth, Hypoglycemia, Carbohydrate metabolism, Gastroenterology, Nephropathy, chemistry.chemical_compound, R5-920, Internal medicine, Lactic acidemia, medicine, Genetics (clinical), Glycogen storage disease I, Hypertriglyceridemia, Glycogen storage disease type I, Triglyceride, business.industry, metabolic control, medicine.disease, chemistry, Metabolic control analysis, Pediatrics, Perinatology and Child Health, Cohort, nephropathy, business, liver adenoma |
| الوصف: | Glycogen storage disease type I is an autosomal recessive disorder of carbohydrate metabolism that manifests mainly by hepatomegaly and hypoglycemia with short fasts. Despite strict therapy, patients present long-term renal and liver complications. Data of 36 patients,29 GSD Ia and 7 Ib from a high complexity Hospital in Argentina was collected retrospectively. Collected data included diagnosis, anthropometric, biochemical parameters, therapy and follow-up. Treatment increased Height SDS (p=0.012). Patients with good adherence to therapy presented better growth parameters (p=0.049). Instead, admissions were detrimental (p =0.031) and were more common in Ib patients (p=0.002). The early appearance of complications (liver adenomas and nephropathy) was related to sustained triglyceride values > 500mg / dl (p=0.009 and 0.046 respectively). With intensive dietary treatment, clinical and biochemical status improves but cannot be completely corrected in most patients. Growth improves with treatment and this is optimized with adequate adherence. We must take into account that with ageing, more complications will develop. |
| وصف الملف: | text/html |
| اللغة: | English |
| تدمد: | 2326-4594 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c56d6a9df990cfd6f8b8981cc8d9e1bTest http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100307&tlng=enTest |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....3c56d6a9df990cfd6f8b8981cc8d9e1b |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 23264594 |
|---|