Table of Contents

HK J Paediatr (New Series)
Vol 14. No. 4, 2009

HK J Paediatr (New Series) 2009;14:243-251

Original Article

Variable Response to Enzyme Replacement Therapy in Two Chinese Children with Infantile-onset Pompe Disease in Hong Kong
兩例香港中國兒童嬰兒期發病龐貝氏(Pompe)病對酶替代治療易變的反應

GWK Poon, AMK Kwok, PT Cheung, Tc Yung, YK Ng, NS Tsoi, KY Wong, LCK Low


Abstract

Pompe disease, a rare autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase, results in lysosomal accumulation of glycogen in multiple tissues, primarily affecting muscles. Infantile-onset Pompe disease is characterised by generalised muscle weakness, hypotonia and lethal cardiomyopathy, resulting in death within the first year of life. The advent of enzyme replacement therapy has changed the natural history of the disease. We report our experience of the use of recombinant human acid alpha-glucosidase in the treatment of two Chinese patients with infantile-onset Pompe disease in Hong Kong.

Pompe病是一種因酸性α葡萄糖苷酶缺乏,造成多種組織糖元溶酶體儲積罕見退行性疾病,首先影響到肌肉。嬰兒期發病Pompe病的病徵為全身性肌無力、低張力及致命性的心肌病,導致出生後首年內夭折。酶替代療法的出現已經改變了疾病的自然病程。我們報導兩例香港中國兒童嬰兒期發病Pompe病的經驗,均運用重組人酸性a葡萄糖苷酶來治療。

Keyword : Chinese; Enzyme replacement; Pompe disease

關鍵詞:兒童、酶替代療法、龐貝氏(Pompe)病

 
 

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