Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center

Korean Journal of Pediatrics

Hyung-Doo Park¹  Jinsup Kim²  Aram Yang³  Eu-Jin Choi⁴  Eun-Kyung Kwon⁴  Jinyoung Song⁵  I-Seok Kang⁵  Sung Yoon Cho⁵  Min-Sun Kim⁵  Minji Im⁵  Ari Song⁵  June Huh⁵  Dong-Kyu Jin⁵  Sun-Ju Han⁶ 

[1] Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea;Department of Pediatrics, Hanyang University College of Medicine, Seoul, Korea;Department of Pediatrics, Inha University College of Medicine, Incheon, Korea;Department of Pediatrics, Samsung Medical Center, Seoul, Korea;Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea;Samsung Biomedical Research Institute, Seoul, Korea;

关键词: Glycogen storage disease II;    Alglucosidase alfa;    Enzyme replacement therapy;    GAA;    Hypotonia;   

DOI  :  10.3345/kjp.2018.06968

来源: DOAJ

【 摘 要 】

Purpose Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of acid alphaglucosidase resulting from pathogenic GAA variants. This study describes the clinical features, genotypes, changes before and after enzyme replacement therapy (ERT), and long-term outcomes in patients with infantile-onset PD (IOPD) and late-onset PD (LOPD) at a tertiary medical center. Methods The medical records of 5 Korean patients (2 male, 3 female patients) diagnosed with PD between 2002 and 2013 at Samsung Medical Center in Seoul, Republic of Korea were retrospectively reviewed for data, including clinical and genetic characteristics at diagnosis and clinical course after ERT. Results Common initial symptoms included hypotonia, cyanosis, and tachycardia in patients with IOPD and limb girdle weakness in patients with LOPD. Electrocardiography at diagnosis revealed hypertrophic cardiomyopathy in all patients with IOPD who showed a stable disease course during a median follow-up period of 10 years. Patients with LOPD showed improved hepatomegaly and liver transaminase level after ERT. Conclusion As ERT is effective for treatment of PD, early identification of this disease is very important. Thus, patients with IOPD should be considered candidates for clinical trials of new drugs in the future.

【 授权许可】

Unknown