[甘露糖苷贮积症：一种简单的诊断方法]
[Mannosidosis: a simple diagnosis].
作者信息
Farriaux J P, Fontaine G
出版信息
Arch Fr Pediatr. 1976 Jan;33(1):11-22.
PMID:985028
Abstract
Mannosidosis is a new and rare disorder. The following clinical symptoms should evolve its diagnosis: facial dysmorphy with slight mental retardation; bone deformities with abnormal L2 vertebra and craniosynostosis; biological abnormalities with vacuolized lymphocytes and absence of urinary mucopolysaccharides. Definite diagnosis relies upon detection of mannose oligosaccharides in the urine and serum deficiency of alpha-D-mannosidase.
摘要
甘露糖苷贮积症是一种新的罕见疾病。以下临床症状有助于其诊断：面部畸形伴轻度智力迟钝；骨骼畸形伴第二腰椎异常和颅缝早闭；生物学异常表现为淋巴细胞空泡化和尿中黏多糖缺乏。确诊依赖于尿液中甘露糖寡糖的检测以及α-D-甘露糖苷酶的血清缺乏。
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