AI Article Synopsis
- The study reports on two childhood cases of type 1 Gaucher's disease, one involving a 6-year-old boy and the other a 9-year-old girl, both diagnosed with symptoms such as anemia and hepatosplenomegaly.
- Both patients carried the N370S/L444P genetic mutation and began enzyme replacement therapy using imiglucerase, initially starting at a dose of 60 U/kg every two weeks.
- After 9 years of treatment, both patients successfully maintained their therapeutic goals, eventually stabilizing their dosage to 30 U/kg.
Article Abstract
We report two cases of type 1 Gaucher's disease in childhood and their outcomes after 9 years of enzyme replacement therapy. The first case concerns a 6-year-old boy who was diagnosed with Gaucher's disease after developing petechial exanthema, thrombocytopenia, anemia and hepatosplenomegaly, coinciding with chickenpox. The second case involves a 9-year-old girl who was referred to our unit. She had hepatosplenomegaly since 4-month-old and subsequently developed thrombocytopenia. Both patients have the N370S/L444P mutation. Enzyme replacement therapy was started with 60 U/kg imiglucerase every 2 weeks at the age of 6 and 9 years, respectively. In both patients, the therapeutic goals were achieved and maintained throughout treatment with a dose of 30 U/kg.
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| http://dx.doi.org/10.1016/S0025-7753(11)70016-1 | DOI Listing |
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