title: Close monitoring of initial enzyme replacement therapy in a patient with childhood-onset Pompe disease.
abstract: Pompe disease is classified into infantile and late-onset (childhood and adult) forms based on onset age and degree of organ involvement. While benefits of enzyme replacement therapy (ERT) for the infantile form have been confirmed, efficacy for late-onset forms reportedly varies. We report close monitoring of initial ERT, focusing especially on the first year, in a 12-year-old boy with childhood-onset Pompe disease. At age 10, he started ERT at 20 mg/kg every other week. Respiratory and motor functions were evaluated at each infusion, and by skeletal muscle computed tomography (CT) and cardiac echography every 4 months. He gained the ability to climb stairs without a rail and % vital capacity improved just 1.5 months after starting ERT. Grip power, manual muscle testing (MMT) and the timed and 6-min walking distance tests (6MWT) improved promptly, paralleling improvements in clinical symptoms. However, this steady improvement stopped around 8 months, with deterioration to the initial level by about 24 months. Antibody against recombinant human alpha-glucosidase was very low at 15 months; therefore, the lack of treatment response did not completely correspond to antibody production. On the other hand, cardiac wall thickening worsened after 4 months, then improved to better than baseline after 8 months, and this improvement was well maintained. Among our set parameters, the timed test results corresponded better to his changing clinical course than did grip power, MMT or 6-min walking test results.
authors.affiliation: Department of Pediatrics, Heart Institute of Japan, Tokyo Women's Medical University, School of Medicine, Tokyo, Japan. keishi@ped.twmu.ac.jp
authors.forename: Keiko
authors.initials: K
authors.lastname: Ishigaki
authors.forename: Terumi
authors.initials: T
authors.lastname: Murakami
authors.forename: Toshio
authors.initials: T
authors.lastname: Nakanishi
authors.forename: Eri
authors.initials: E
authors.lastname: Oda
authors.forename: Takatoshi
authors.initials: T
authors.lastname: Sato
authors.forename: Makiko
authors.initials: M
authors.lastname: Osawa
mesh_terms: D002648:Child; D003402:Creatine Kinase / Q000097:blood; D056947:Enzyme Replacement Therapy / Q000379:methods*; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis / Q000503:physiopathology / Q000628:therapy*; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D008991:Monitoring, Physiologic / Q000379:methods*; D016896:Treatment Outcome; D016138:Walking / Q000502:physiology
chemical_list: D003402:Creatine Kinase