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Abstract
Background Gaucher disease is a rare genetic disorder, due to a deficiency of glucocerebrosidase activity. It is most often manifested by hepatosplenomegaly, haematological and biochemical disorder. First-line treatment is based on enzyme replacement therapy (ERT).
Purpose To evaluate the tolerance and effectiveness of ERT in children with type 1 Gaucher disease.
Material and methods We report the case of four patients with type 1 Gaucher disease treated with ERT (once every 15 days) at the neuro-metabolic diseases unit of our hospital. The evaluation was performed on the basis of primary effectiveness variables (haemoglobin concentration, platelet count, liver parameters) and the reporting of adverse events.
Results There were three girls and one boy, whose clinical signs were manifested by hepatosplenomegaly and haematological disorder in all patients.
Patient 1: 9-year-old girl, early diagnosis,1 year of treatment with imiglucerase, 5 months of interruption and resumption of ERT.
Patient 2: 17-year-old girl, 10 months of treatment with imiglucerase.
Patient 3: 3-year-old girl, early diagnosis, 1 month of imiglucerase treatment.
Patient 4: 11-year-old boy, delayed diagnosis, 11 months of treatment with taliglucerase, after 1 year interruption of ERT.
The ERT had generally been well tolerated and no adverse effects were identified.
Conclusion The ERT used by our patients has an acceptable tolerance profile as well as beneficial effects on the parameters related to the disease. These beneficial effects were demonstrated by the effectiveness variables that were kept stable or improved throughout the treatment in children with Gaucher disease.
References and/or acknowledgements Thanks to the paediatrics department for their support.
No conflict of interest.