Quantitative Imaging Study of Liver and Spleen Lesions in Patients with Gaucher Disease / 罕见病研究

ABSTRACT

  Objective  Quantitative imaging evaluation was performed on the liver and spleen system lesions of patients with Gaucher disease after treatment. in order to deepen the understanding of Gaucher disease.  Methods  From August 1999 to August 2018, we registered, examined and treated children with Gaucher disease, and conducted quantitative imaging research on 40 children with Gaucher disease who were intensively followed up in Beijing Children's hospital, Capital Medical University until August 2018. At the same time, 34 normal volunteers were matched. All subjects were scanned with magnetic resonance imaging(MRI). The fat fraction(FF), iron content(R2*), standard apparent diffusion coefficient(sADC), slow apparent diffusion coefficient(D), fast apparent diffusion coefficient(D*) and perfusion fraction(f)of the liver and spleen were measured. The quantitative parameter values measured by patients with Gaucher disease and normal subjects were statistically analyzed by independent sample t-tests.  Results  The results showed that there was no significant difference in FF, R2*, sADC, D, D*, f of the liver and spleen, and liver elasticity was also within the normal range. However, the volume of liver and spleen in patients was significantly different from that in normal subjects.  Conclusions  After treatment, the volume of the liver and spleen in patients with Gaucher disease is greater than that of normal people, but other quantitative parameters are within the normal range, indicating that long-term enzyme replacement therapy can delay the progress of liver and spleen diseases to a certain extent. Quantitative imaging has a certain value in the evaluation of Gaucher disease.