BIOCHEMICAL INVESTIGATIONS OF DIFFERENT FORMS OF OSTEOGENESIS IMPERFECTA - EVALUATION OF 44 CASES
BIOCHEMICAL INVESTIGATIONS OF DIFFERENT FORMS OF OSTEOGENESIS IMPERFECTA - EVALUATION OF 44 CASES
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DOI：
10.3109/03008208309004847
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发表时间：
1983-01-01
影响因子：
2.9
通讯作者：
CASTELLANI, AA
中科院分区：
文献类型：
--
作者：
CETTA, G;DELUCA, G;CASTELLANI, AA
将44例成骨不全症（osteogenesis imperfecta， OI）患者根据临床和遗传学标准进行分组，检测各组患者胶原蛋白和糖胺聚糖（glycosaminglycans， GAG）的变化。最大的患者组受轻度成骨不全的影响，皮肤中III型胶原与I型胶原的比例增加，皮肤胶原中羟基赖氨酸二糖苷与单糖苷的比例增加。从临床和生物化学的角度来看，患有严重非致死性成骨不全的患者似乎具有异质性。皮肤和尿液中二糖苷与单糖苷的比例明显增加，而皮肤中III型与I型胶原蛋白的比例在正常范围内或显著降低。其中一些患者还表现出涉及蛋白聚糖的改变，例如尿GAG中半乳糖胺与氨基葡萄糖的比例降低。在5例患致死性成骨不全的儿童中观察到类似且更显著的胶原蛋白和GAG代谢改变。
Patients (44) with osteogenesis imperfecta (OI) were divided into groups on the basis of clinical and genetic criteria and the alterations in collagen and glycosaminoglycans (GAG) in the subjects of each group were examined. The largest group of patients was affected with a mild form of OI and showed an increased ratio of type III to type I collagen in skin and an increase of the ratio of hydroxylysine diglycoside to monoglycoside in skin collagen. The group of patients affected with a severe nonlethal form of OI appeared to be heterogeneous both from a clinical and from a biochemical point of view. A marked increase of the diglycoside to monoglycoside ratio was observed in skin and urine, whereas the ratio of type III to type I collagen in skin was within the normal range or significantly decreased. Some of these patients also showed alterations involving proteoglycans, e.g., in urinary GAG a decreased galactosamine to glucosamine ratio could be demonstrated. Similar and more marked alterations involving both collagen and GAG metabolism were observed in 5 children affected with a lethal form of OI.