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Rapid and long-lasting efficacy of high-dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review.
Higashi, Kanako; Sonoda, Yuri; Kaku, Noriyuki; Fujii, Fumihiko; Yamashita, Fumiya; Lee, Sooyoung; Tocan, Vlad; Ebihara, Go; Matsuoka, Wakato; Tetsuhara, Kenichi; Sonoda, Motoshi; Chong, Pin Fee; Mushimoto, Yuichi; Kojima-Ishii, Kanako; Ishimura, Masataka; Koga, Yuhki; Fukuta, Atsuhisa; Tsuchihashi, Nana Akagi; Kikuchi, Yoshikazu; Karashima, Takahito; Sawada, Takaaki; Hotta, Taeko; Yoshimitsu, Makoto; Terazono, Hideyuki; Tajiri, Tatsuro; Nakagawa, Takashi; Sakai, Yasunari; Nakamura, Kimitoshi; Ohga, Shouichi.
Afiliación
  • Higashi K; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Sonoda Y; Emergency and Critical Care Center, Kyushu University Hospital, Fukuoka, Japan.
  • Kaku N; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Fujii F; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Yamashita F; Emergency and Critical Care Center, Kyushu University Hospital, Fukuoka, Japan.
  • Lee S; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Tocan V; Department of Pediatrics, National Hospital Organization Fukuoka Higashi Medical Center, Koga, Japan.
  • Ebihara G; Department of Pediatrics, National Hospital Organization Fukuoka Higashi Medical Center, Koga, Japan.
  • Matsuoka W; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Tetsuhara K; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Sonoda M; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Chong PF; Emergency and Critical Care Center, Kyushu University Hospital, Fukuoka, Japan.
  • Mushimoto Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Kojima-Ishii K; Emergency and Critical Care Center, Kyushu University Hospital, Fukuoka, Japan.
  • Ishimura M; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Koga Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Fukuta A; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Tsuchihashi NA; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Kikuchi Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Karashima T; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Sawada T; Department of Pediatric Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Hotta T; Department of Otorhinolaryngology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Yoshimitsu M; Department of Otorhinolaryngology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Terazono H; Department of Clinical Chemistry and Laboratory of Medicine, Kyushu University Hospital, Fukuoka, Japan.
  • Tajiri T; Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
  • Nakagawa T; Department of Clinical Chemistry and Laboratory of Medicine, Kyushu University Hospital, Fukuoka, Japan.
  • Sakai Y; Department of Hematology and Rheumatology, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.
  • Nakamura K; Department of Clinical Pharmacy and Pharmacology, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
  • Ohga S; Department of Pediatric Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Mol Genet Genomic Med ; 12(4): e2427, 2024 Apr.
Article en En | MEDLINE | ID: mdl-38553911
ABSTRACT
Gaucher disease (GD) is a lysosomal storage disorder caused by a deficiency in the GBA1-encoded enzyme, ß-glucocerebrosidase. Enzyme replacement therapy is ineffective for neuronopathic Gaucher disease (nGD). High-dose ambroxol has been administered as an alternative treatment for a group of patients with nGD. However, little is known about the clinical indication and the long-term outcome of patients after ambroxol therapy. We herein report a case of a female patient who presented with a progressive disease of GD type 2 from 11 months of age and had the pathogenic variants of p.L483P (formerly defined as p.L444P) and p.R502H (p.R463H) in GBA1. A combined treatment of imiglucerase with ambroxol started improving the patient's motor activity in 1 week, while it kept the long-lasting effect of preventing the deteriorating phenotype for 30 months. A literature review identified 40 patients with nGD, who had received high-dose ambroxol therapy. More than 65% of these patients favorably responded to the molecular chaperone therapy, irrespective of p.L483P homozygous, heterozygous or the other genotypes. These results highlight the long-lasting effect of ambroxol-based chaperone therapy for patients with an expanding spectrum of mutations in GBA1.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades por Almacenamiento Lisosomal / Ambroxol / Enfermedad de Gaucher Límite: Female / Humans Idioma: En Revista: Mol Genet Genomic Med Año: 2024 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades por Almacenamiento Lisosomal / Ambroxol / Enfermedad de Gaucher Límite: Female / Humans Idioma: En Revista: Mol Genet Genomic Med Año: 2024 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Estados Unidos