Hematologic Findings of Inherited Metabolic Disease: They are More Than Expected
| Autor: | Ertan Sal, Ülker Koçak, Idil Yenicesu, Fatih Süheyl Ezgü, Türkiz Gürsel, İlyas Okur, Zühre Kaya, Leyla Tümer, Alev Hasanoglu |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Adult Male medicine.medical_specialty Adolescent Anemia 030105 genetics & heredity Gastroenterology 03 medical and health sciences hemic and lymphatic diseases Internal medicine medicine Humans Leukocytosis Vitamin B12 Nutritional anemia Child Thrombocytosis business.industry Infant Hematology Middle Aged medicine.disease Hematologic Diseases Oncology Iron-deficiency anemia Child Preschool Pediatrics Perinatology and Child Health Chronic Disease Female Hemophagocytosis medicine.symptom business Metabolism Inborn Errors Anemia of chronic disease |
| Zdroj: | Journal of pediatric hematology/oncology. 40(5) |
| ISSN: | 1536-3678 |
| Popis: | Inherited metabolic diseases are pathologic conditions that generally develop as a result of impairment of the production or breakdown of protein, carbohydrate, and fatty acids. Early determination of hematological findings has a positive effect on the prognosis of metabolic diseases. Three hundred eighteen patients who were being followed-up within the previous 6 months at Department of Pediatric Nutrition and Metabolism, Gazi University, Turkey, were included in the study. The hematological findings were classified under 7 main groups: anemia of chronic disease, iron deficiency anemia, vitamin B12 deficiency anemia, hemophagocytosis, leukocytosis, and thrombocytosis. Nine hundred twenty-two hematological examinations of the 319 patients were included in the study, and 283 hematological findings were determined, 127 anemia of chronic disease, 81 iron deficiency anemia, 56 cytopenia, and 4 vitamin B12 deficiency anemia. Leukocytosis (n=1), thrombocytosis (n=5), and hemophagocytosis (n=9) were also observed. It was determined that, although anemia of chronic disease and nutritional anemia are the most common hematological findings, these may be diagnosed late, whereas neutropenia, thrombocytopenia, pancytopenia, and hemostasis disorders may be diagnosed earlier. Our study is the most comprehensive one in the literature, and we think it would positively contribute to the monitoring and prognosis of congenital metabolic diseases. |
| Databáze: | OpenAIRE |
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