Clinical consequences of interrupting enzyme replacement therapy in children with type 1 Gaucher disease
| Autor: | Regina Kohan, Luis Aversa, Guillermo Drelichman, Elena Graciela, Elvira Ponce, Daniel Freigeiro, Nora Basack |
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| Rok vydání: | 2006 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Adolescent Anemia medicine.medical_treatment Enzyme Therapy Risk Assessment Organomegaly Drug Administration Schedule Central nervous system disease Cohort Studies Treatment Refusal Hemoglobins Femur Head Necrosis Medicine Humans Child Retrospective Studies Chemotherapy Gaucher Disease Dose-Response Relationship Drug business.industry nutritional and metabolic diseases Infant Retrospective cohort study Enzyme replacement therapy medicine.disease Thrombocytopenia Surgery El Niño Child Preschool Pediatrics Perinatology and Child Health Glucosylceramidase Female medicine.symptom business Cohort study Follow-Up Studies Hepatomegaly |
| Zdroj: | The Journal of pediatrics. 151(2) |
| ISSN: | 1097-6833 |
| Popis: | Objective To document the effects of interrupting enzyme replacement therapy (ERT) for at least 1 year in a group of children with type 1 Gaucher disease. Study design All children with type 1 Gaucher disease who were treated at 2 pediatric centers and who were required to suspend ERT for at least 1 year were studied before, during, and after treatment interruption. Hemoglobin and platelet levels, organomegaly, growth, and bone manifestations were monitored. Results Five of 32 children experienced treatment interruptions. Before ERT, all children had splenomegaly, 4 children had hepatomegaly, 4 children had growth retardation, 3 children had skeletal manifestations, 3 children had thrombocytopenia, and 1 child had anemia. After 1 to 7 years of ERT, all children were growing normally, none had skeletal manifestations, organomegaly had decreased or disappeared, and hematologic features had improved. After 15 to 36 months of ERT interruption, splenomegaly recurred or worsened in all children, hepatomegaly and hematologic features recurred or worsened in 4 children, serious bone manifestations developed in 4 children, and 3 children experienced growth retardation. After at least 11 months of resumed ERT in 4 children, 2 had hepatomegaly, 2 had splenomegaly, and all had persistent skeletal manifestations. Conclusion Interruption of ERT in children with type 1 Gaucher disease should be avoided because it can cause recurrent organomegaly, growth delays, and skeletal manifestations that do not resolve after treatment reinstatement. |
| Databáze: | OpenAIRE |
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