Diagnosis of I-Cell Disease

包涵體細胞疾病(Mucolipidosis Ⅱ，黏脂質代謝異常第二型)是一種罕見的溶小體儲積症。因爲溶小體酵素的運送發生障礙，導致這許多小體酵缺乏，故包涵體細胞可由其將特殊的酵素分布來診斷－即細胞內酵素缺乏，但這些酵素卻過量存細胞外。一個六個月的女嬰，因爲先天性兩側髖關節脫臼、發育遲緩、面部外觀粗糙，及類似粘多醣儲積症之骨骼變化，且發病期早，幫被懷疑爲包涵體細胞疾病。爲此所進行的溶小體酵素實驗，包括α-Mannanosidase、α-Fuoosidse、β-Glucuronidase及β-galactosidase。結果發現以上四種酵素活性在患者白血球及皮膚纖維芽細胞中的很低，但在積累資金及纖維母細胞培養液中則相當高。其血漿β-Glucuronidase活性甚至高達正常人的七十倍。在顯微鏡下觀察其纖維芽細胞時，則發現細胞質中充滿了包涵體，患者在一歲時死於呼吸衰竭。

關鍵字

包涵體細胞疾病；黏脂質儲積症；溶小體儲積症

並列摘要

I-cell disease (mucolipidosis Ⅱ) is a rare lysosomal storage disease, with its primary defect the deficiency of an enzyme responsible for lysosomal enzyme processing, resulting in multiple lysosomal enzyme insufficiency. Diagnosis of I-cell disease usually can be made by the specific patterns of enzyme distribution: deficient intracellular, but excessive extracellular, enzymes. A six month old female infant was found to have bilateral congenital dislocation of hips, developmental delay, coarsening of facial appearance and dysostosis multiplex. In view of the very early onset of disease, I-cell disease was suspected. Lysosomal enzyme tests (including alpha-mannosidase, alpha-fucosidase, beta-glucuronidase and beta-galactosidase) were performed on the leukocytes, skin fibroblasts, plasma and media from fibroblast cultures. All activities of the four enzymes were low in both leukocytes and fibroblasts, but were 10- to 70-fold higher than normal in plasma, and high in culture media. Both the clinical and laboratory findings here were consistent with a diagnosis of I-cell disease.

並列關鍵字

I-cell disease ； Mucolipidosis ； Lysosomal storage disease

國際替代計量

Diagnosis of I-Cell Disease

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