التفاصيل البيبلوغرافية
العنوان: |
Rapid and long‐lasting efficacy of high‐dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review |
المؤلفون: |
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 |
المساهمون: |
Japan Society for the Promotion of Science |
المصدر: |
Molecular Genetics & Genomic Medicine ; volume 12, issue 4 ; ISSN 2324-9269 2324-9269 |
بيانات النشر: |
Wiley |
سنة النشر: |
2024 |
المجموعة: |
Wiley Online Library (Open Access Articles via Crossref) |
الوصف: |
Gaucher disease (GD) is a lysosomal storage disorder caused by a deficiency in the GBA1 ‐encoded enzyme, β‐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 . |
نوع الوثيقة: |
article in journal/newspaper |
اللغة: |
English |
DOI: |
10.1002/mgg3.2427 |
الإتاحة: |
https://doi.org/10.1002/mgg3.2427Test |
حقوق: |
http://creativecommons.org/licenses/by/4.0Test/ |
رقم الانضمام: |
edsbas.8AC678C1 |
قاعدة البيانات: |
BASE |