Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report

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• 作者：Ferdinando Ceravolo ; Michele Grisolia ; Simona Sestito…
• 关键词：Neuronopathic Gaucher disease (NGD) ; Enzyme replacement therapy (ERT) ; Substrate reduction therapy (SRT) ; Miglustat ; Neurological symptoms ; Combination therapy
• 刊名：Journal of Medical Case Reports
• 出版年：2017
• 出版时间：December 2017
• 年：2017
• 卷：11
• 期：1
• 全文大小：352KB
• 刊物主题：Medicine/Public Health, general; General Practice / Family Medicine; Public Health; Primary Care Medicine;
• 出版者：BioMed Central
• ISSN：1752-1947
• 卷排序：11

文摘

BackgroundThe variants of neuronopathic Gaucher disease may be viewed as a clinical phenotypic continuum divided into acute and chronic forms. The chronic neuronopathic form of Gaucher disease is characterized by a later onset of neurological symptoms and protracted neurological and visceral involvement. The first-choice treatment for nonneuronopathic Gaucher disease is enzyme replacement therapy with recombinant analogues of the deficient human enzyme glucocerebrosidase. Enzyme replacement therapy has been shown to improve hematological and bone manifestations associated with Gaucher disease, but, as with most proteins, recombinant enzymes cannot cross the blood–brain barrier, which prevents effects on neurological manifestations. Substrate reduction therapy with miglustat (N-butyldeoxynojirimycin) inhibits glucosylceramide synthase, which catalyzes the first step in glycosphingolipid synthesis. Because miglustat can cross the blood–brain barrier, it has been suggested that, combined with enzyme replacement therapy, it might be effective in treating neurological symptoms in patients with neuronopathic Gaucher disease.