Bone mineral density and lean muscle mass characteristics in children with Gaucher disease treated with enzyme replacement therapy or untreated (original) (raw)
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Gaucher disease: assessment of skeletal involvement and therapeutic responses to enzyme replacement
Skeletal Radiology, 1997
The clinical, pathological and radiological manifestations of type 1 Gaucher disease and the role of imaging techniques such as CT, MRI and sulfur-colloid scintigraphy in the management of these patients is discussed. MRI appears to be the most valuable imaging technique for evaluating bone marrow involvement and detecting disease activity. MRI is also useful in assessing therapeutic responses to enzyme replacement therapy.
Bone density changes with enzyme therapy for Gaucher disease
Journal of Bone and Mineral Metabolism, 2004
Gaucher disease is the most common lysosomal storage disease. Enzyme replacement therapy engenders improvement in hematological and visceral parameters; however, improvement in bone density (BMD) with treatment has not been confirmed. This study presents follow-up of BMD in the first ten patients in Israel treated with low-dose recombinant enzyme for up to 108 months. BMD at femoral neck and lumbar spine was determined by dual-energy X-ray absorptiometry (DEXA) at the start of the trial, after 3-6 months, after 18-24 months, and at the most recent follow-up. BMD in all patients was very low at onset and never normalized. There was a decrease in BMD in all patients at 3-6 months. Older patients (four women, two men; ΟΎ30 years of age) showed some improvement in BMD during treatment. Younger patients (four females; 18-23 years of age) did not show a statistically significant improvement. These findings might reflect the failure of patients with Gaucher disease to achieve expected peak bone density at appropriate chronological milestones despite treatment. Nonetheless, the z-scores of the older patients were better than those of the younger patients, implying some catch-up period. Yet, some patients with Gaucher disease evince rapid onset of osteoporosis in early adulthood. Enzyme treatment per se, as well as attendant improved well-being and increased physical activity, may induce amelioration in BMD at this later stage. One may consider adding anti-osteoporosis therapy in young adults to induce earlier "catch up" to peak bone mass, and then enzyme replacement in later adulthood to prevent decrements in bone mass related to Gaucher cell infiltration.
Blood cells, molecules & diseases, 2016
It is held that enzyme replacement therapy (ERT) accelerates the growth rate in children with Gaucher disease, but its effect on final height has not been established with certainty. This study presents final heights of Gaucher patients followed up for 15years. The study included 41 adults with non-neuronopathic Gaucher disease. The final height of the patients and age at puberty was compared to their mid-parental target height and to their siblings' heights. Mean final height standard deviation score (HSDS) in the patients was -0.22, but none of the patients was abnormally short (HSDS of less than -2.2). Mean age at menarche of the female patients (14.7years) was significantly delayed compared to that of their mothers (P=0.0005), and mean age at first shaving in the boys was 16years. Our study showed that the mean final height of Gaucher patients fell below the mean of the 2000 CDC growth charts, but the patients were not of short stature (height less than the 3rd percentile). ...