title: Outcome of early-treated type III Gaucher disease patients.
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.
authors.affiliation: Department of Medical Genetics and Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
authors.forename: Ni-Chung
authors.initials: NC
authors.lastname: Lee
authors.affiliation: Department of Medical Genetics and Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
authors.forename: Yin-Hsiu
authors.initials: YH
authors.lastname: Chien
authors.affiliation: Department of Pediatrics, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chia-Yi, Taiwan.
authors.forename: Siew-Lee
authors.initials: SL
authors.lastname: Wong
authors.affiliation: Department of Pediatrics, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan.
authors.forename: Jiunn-Ming
authors.initials: JM
authors.lastname: Sheen
authors.affiliation: Department of Pediatrics and Medical Genetics, China Medical University Hospital, Taichung, Taiwan.
authors.forename: Fuu-Jen
authors.initials: FJ
authors.lastname: Tsai
authors.affiliation: Department of Radiology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
authors.forename: Shinn-Forng
authors.initials: SF
authors.lastname: Peng
authors.affiliation: Department of Radiology, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chia-Yi, Taiwan.
authors.forename: Joseph Hang
authors.initials: JH
authors.lastname: Leung
authors.affiliation: Department of Pediatrics, Kaohsiung Medical University Hospital and Department of Medical Genetics, Kaohsiung Medical University College of Medicine, Kaohsiung, Taiwan.
authors.forename: Mei-Chyn
authors.initials: MC
authors.lastname: Chao
authors.affiliation: Department of Pathology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
authors.forename: Chia-Tung
authors.initials: CT
authors.lastname: Shun
authors.affiliation: Department of Medical Genetics and Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan. Electronic address: hwuwlntu@ntu.edu.tw.
authors.forename: Wuh-Liang
authors.initials: WL
authors.lastname: Hwu
mesh_terms: D001706:Biopsy; D002675:Child, Preschool; D018450:Disease Progression; D056947:Enzyme Replacement Therapy; D005260:Female; D005500:Follow-Up Studies; D005776:Gaucher Disease / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D005962:Glucosylceramidase / Q000008:administration & dosage / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D008198:Lymph Nodes / Q000473:pathology; D008206:Lymphatic Diseases / Q000175:diagnosis; D008297:Male; D011994:Recombinant Proteins / Q000008:administration & dosage / Q000627:therapeutic use; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome
chemical_list: D011994:Recombinant Proteins; D005962:Glucosylceramidase
keywords: Enzyme replacement therapy; Lymphadenopathy; Mental retardation; Neuropathic; Type IIIB Gaucher disease; p.L444P mutation