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Morquio氏病－壹家族病例報告
Morquio's Disease Type A-A Family Report
摘要
Morquio氏病，即粘多醣代謝障礙第四A型(Mucopolysaccharidosis ⅣA)，乃因缺乏醃N-acetylgalactosamine-6-sulfate sulfatase，造成骨骼、眼睛、心臟、聽覺等異常及障礙，為體染色體隱性遺傳性疾病。眼睛方面主要表徵為角膜混濁，視網膜則為正常。 本篇報告一家族病例，其父母外觀皆為正常，而子女三人則表現典型Morquio氏病的症狀，包括侏儒(dwarfism)、脊柱後側彎(Kyphoscoliosis)、關節鬆弛(laxity)、髖臼發育不良(acetabulum dysplasia)及齒突骨發育不全(odontoid hypoplasia)等，眼睛方面則皆有角膜混濁，此一家族經測量皮膚切片培養之纖維母細胞(fibroblast)中N-acetylgalactosamine-6-sulfate sulfatase含量而得到確定診斷。此病例相當罕見，發生於一家族多往成員，且有完整的實驗檢查診斷，故提出報告。
關鍵字
無資料並列摘要
Morquio's disease type A, so called mucopolysaccharidosis type Ⅳ A, is a disease of the enzyme N-acetylgalactosamine-6-sulfate sulfatase deficiency. It is transmitted as autosomal recessive trait. The systemic manifestations include dwarfism and skeletal dysplasia. The eye manifestations include cornea clouding and normal fundus appearance. We report 3 siblings of the same family, who had typical characteristics of Morquio's disease including short trunk and limbs, kyphoscoliosis, knock knee, joint laxicity, and corneal opacification. The enzyme assay of the cultured skin fibroblast confirmed the diagnosis.
延伸閱讀
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