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- W4387234786 abstract "Abstract Purpose To evaluate the demographic and clinical data of patients with type 1 Gaucher disease, a rare disease, at a single centre. Methods The data of patients with type 1 Gaucher disease who were followed up at the Endocrinology Department of Erciyes University’s Medical Faculty Hospital between 2019 and 2021 were evaluated. Results We evaluated 13 patients with type 1 Gaucher disease who were diagnosed or followed up at our centre and whose data could be accessed. Four of the patients were male, and nine were female. The mean age at the time of diagnosis was 33 (± 11.32) years. Hepatomegaly was present in 11 of the 13 patients. Eight of the 13 patients had splenomegaly. Three patients had undergone splenectomy. The liver and spleen dimensions of two patients were normal. The platelet count was normal in three of the 10 patients without a history of undergoing splenectomy. Bone densitometry revealed that six patients had a lumbar z-score of ≤ − 2.5. Five patients had a score between − 1 and − 2.5, and two patients had a normal z-score. The mean treatment duration was 36 (± 19.46) months. All our patients were administered enzyme replacement therapy. Conclusion Gaucher disease is a rare lysosomal storage disease that affects many systems. It causes irreversible morbidity in patients in whom diagnosis is delayed. The main treatment modality was enzyme replacement therapy. Because it is a rare and multisystemic disease, patients should be followed up at centres with experience in treating Gaucher disease." @default.
- W4387234786 created "2023-10-02" @default.
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- W4387234786 date "2023-10-02" @default.
- W4387234786 modified "2023-10-09" @default.
- W4387234786 title "Overall assessment of patients with type 1 Gaucher disease: a single-centre’s experience" @default.
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- W4387234786 doi "https://doi.org/10.1007/s44162-023-00019-6" @default.
- W4387234786 hasPublicationYear "2023" @default.
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