Аcute lymphoblastic leukemia in a child with Gaucher disease type 1 (сlinical сase)
DOI:
https://doi.org/10.15574/SP.2025.6(150).110116Keywords:
Gaucher disease type 1, acute lymphoblastic leukemia, internal organ involvement, anemia, thrombocytopenia, hepatosplenic syndrome, enzyme replacement therapy, programmed hemoblastosis treatmentAbstract
Aim - to investigate the features of the course of ALL in a child with GD1 and analyze the impact of both diseases on the clinical picture and the effectiveness of therapy.
This article presents a clinical case of the diagnosis and treatment GD1 and ALL in a five-year-old boy. The patient received enzyme replacement therapy (ERT) with imiglucerase for GD1. The disease manifested with hemorrhagic syndrome, intoxication syndrome, anemia, hepatosplenomegaly, and enlargement of peripheral lymph nodes. Hematological, cytological, immunological, and molecular-genetic studies were performed to establish the diagnosis. Treatment followed the ALL IC-BFM 2009 protocol, which included intensive chemotherapy complicated by thrombocytopenia, granulocytopenia, infectious and fungal complications, neuropathy, and cardiomyopathy. Allergic reactions to L-asparaginase were also observed. Despite these complications, genetic polymorphism indicated a favorable therapeutic response and an optimistic prognosis.
A comprehensive approach to managing a child with GD1 and ALL, taking into account the specifics of both conditions, enabled the creation of an individualized treatment plan aimed at achieving remission and improving the patient’s quality of life. The child is currently in clinical and genetic remission.
The study was conducted in accordance with the principles of the Declaration of Helsinki. Informed consent for the research was obtained from the child’s parents.
The authors declare no conflict of interest.
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