Outcome of early-treated type III Gaucher disease patients
Journal
Blood Cells, Molecules, and Diseases
Journal Volume
53
Journal Issue
3
Pages
105-109
Date Issued
2014
Author(s)
Wong S.-L.
Sheen J.-M.
Tsai F.-J.
Leung J.H.
Chao M.-C.
Abstract
Recombinant human acid β-glucosidase GBA (rhGBA) infusion is an effective therapy for non-neuropathic (type I) Gaucher disease (GD), but its effect on subacute neuropathic (type III) GD is still controversial. The most common genotype for type III GD is homozygous c.1448T>C (p.L444P) mutation, and in this study, we treated seven such patients starting from an early age (median 2.1. years; range 1-2.9. years). Before the start of treatment, all patients presented hepatosplenomegaly, anemia, and thrombocytopenia, but with no neurological signs. Normalization of hemoglobin levels and platelet numbers was achieved in all patients in one year. However, after a median treatment period of 7.6. years (2.2-12.0. years), two patients developed horizontal gaze palsy, one had seizures, four demonstrated mental retardation, and five showed kyphosis. Moreover, lymphadenopathy in the neck, thorax, or abdomen was observed in four patients. Therefore, the progression of neurological symptoms in these patients probably reflected the neurologic natural history of type III GD. Residual somatic symptoms, including kyphosis and lymphadenopathy, may be more common than what we thought. An additional treatment will be necessary to improve the outcome of type III GD. ? 2014 Elsevier Inc.
SDGs
Other Subjects
chitotriosidase; hemoglobin; imiglucerase; glucosylceramidase; recombinant protein; anemia; article; child; clinical article; controlled study; disease association; drug dose increase; dual energy X ray absorptiometry; enzyme activity; female; Gaucher disease; gaze paralysis; hepatosplenomegaly; human; kyphosis; lymphadenopathy; male; mental deficiency; osteopenia; preschool child; priority journal; scoring system; seizure; splenomegaly; thrombocyte count; treatment outcome; treatment response; biopsy; computer assisted tomography; disease course; enzyme replacement; follow up; Gaucher disease; genetics; infant; lymph node; Lymphatic Diseases; pathology; Biopsy; Child, Preschool; Disease Progression; Enzyme Replacement Therapy; Female; Follow-Up Studies; Gaucher Disease; Glucosylceramidase; Humans; Infant; Lymph Nodes; Lymphatic Diseases; Male; Recombinant Proteins; Tomography, X-Ray Computed; Treatment Outcome
Type
journal article