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 Pub Date : 2019-06-01 Epub Date: 2018-10-04 DOI:10.3345/kjp.2018.06968
Min-Sun Kim, Ari Song, Minji Im, June Huh, I-Seok Kang, Jinyoung Song, Aram Yang, Jinsup Kim, Eun-Kyung Kwon, Eu-Jin Choi, Sun-Ju Han, Hyung-Doo Park, Sung Yoon Cho, Dong-Kyu Jin
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引用次数: 6

Abstract

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.

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韩国婴儿和晚发性庞贝病患儿的临床和分子特征:10年单中心酶替代治疗经验
目的:庞贝病(PD)是一种常染色体隐性遗传病,由致病性GAA变异引起的酸性α葡萄糖苷酶缺乏引起。本研究描述了一家三级医疗中心的婴儿期PD (IOPD)和晚发型PD (LOPD)患者的临床特征、基因型、酶替代治疗(ERT)前后的变化以及长期预后。方法:回顾性分析2002 - 2013年在韩国首尔三星医疗中心诊断为PD的5例韩国患者(2男3女)的病历资料,包括诊断时的临床和遗传特征以及ERT后的临床病程。结果:常见的初始症状包括低张力、发绀和心动过速,以及LOPD患者的肢带无力。诊断时的心电图显示所有的IOPD患者都有肥厚性心肌病,在中位随访10年期间病情稳定。肝功能衰竭患者肝肿大,肝转氨酶水平明显改善。结论:ERT治疗PD有较好的疗效,早期发现该病非常重要。因此,应将IOPD患者作为未来新药临床试验的候选者。
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期刊介绍: Korean J Pediatr covers clinical and research works relevant to all aspects of child healthcare. The journal aims to serve pediatricians through the prompt publication of significant advances in any field of pediatrics and to rapidly disseminate recently updated knowledge to the public. Additionally, it will initiate dynamic, international, academic discussions concerning the major topics related to pediatrics. Manuscripts are categorized as review articles, original articles, and case reports. Areas of specific interest include: Growth and development, Neonatology, Pediatric neurology, Pediatric nephrology, Pediatric endocrinology, Pediatric cardiology, Pediatric allergy, Pediatric pulmonology, Pediatric infectious diseases, Pediatric immunology, Pediatric hemato-oncology, Pediatric gastroenterology, Nutrition, Human genetics, Metabolic diseases, Adolescence medicine, General pediatrics.
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