A reappraisal of Gaucher disease-diagnosis and disease management algorithms
| Autor: | Hayri Özsan, Gero Massenkeil, Sara Mach Pascual, Jesús Villarrubia, Nora Watman, Pramod K. Mistry, Zachary Spigelman, María Helena Solano, Maria Domenica Cappellini, Elena Lukina, Hanna Rosenbaum |
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| Rok vydání: | 2010 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities medicine.medical_specialty Hematology business.industry nutritional and metabolic diseases Disease Enzyme replacement therapy medicine.disease Optimal management nervous system diseases Central nervous system disease Enzyme testing Internal medicine medicine Disease management (health) Differential diagnosis business Algorithm |
| Zdroj: | American Journal of Hematology. 86:110-115 |
| ISSN: | 0361-8609 |
| Popis: | Type 1 (non-neuronopathic) Gaucher disease was the first lysosomal storage disorder for which an effective enzyme replacement therapy was developed and it has become a prototype for treatments for related orphan diseases. There are currently four treatment options available to patients with Gaucher disease, nevertheless, almost 25% of Type 1 Gaucher patients do not gain timely access to therapy because of delays in diagnosis after the onset of symptoms. Diagnosis of Gaucher disease by enzyme testing is unequivocal, but the rarity of the disease and nonspecific and heterogeneous nature of Gaucher disease symptoms may impede consideration of this disease in the differential diagnosis. To help promote timely diagnosis and optimal management of the protean presentations of Gaucher disease, a consensus meeting was convened to develop algorithms for diagnosis and disease management for Gaucher disease. |
| Databáze: | OpenAIRE |
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