Cetta G, De Luca G, Tenni R, Zanaboni G, Lenzi L, Castellani A A
Connect Tissue Res. 1983;11(2-3):103-11. doi: 10.3109/03008208309004847.
Forty-four patients with Osteogenesis Imperfecta (O.I.) 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 as affected with a mild form of O.I. 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 O.I. 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 GAGs a decreased galactosamine to glucosamine ratio could be demonstrated. Similar and more marked alterations involving both collagen and GAG metabolism were observed in five children affected with a lethal form of O.I.
44例成骨不全症（O.I.）患者根据临床和遗传标准分组，并检测每组患者胶原蛋白和糖胺聚糖（GAG）的变化。最大的一组患者患有轻度O.I.，其皮肤中III型与I型胶原蛋白的比例增加，皮肤胶原蛋白中羟赖氨酸二糖苷与单糖苷的比例增加。患有严重非致死性O.I.的患者组从临床和生化角度来看似乎都是异质性的。在皮肤和尿液中观察到二糖苷与单糖苷比例显著增加，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蛋白聚糖的改变，例如在尿GAG中可证明半乳糖胺与葡萄糖胺的比例降低。在5例患有致死性O.I.的儿童中观察到涉及胶原蛋白和GAG代谢的类似且更明显的改变。
