3例因I型前胶原原α 1 (I)链中缬氨酸取代甘氨酸而导致成骨不全的婴儿的临床病理特征
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Cole WG, Patterson E, Bonadio J, Campbell PE, Fortune DW
3例因I型前胶原原α 1 (I)链中缬氨酸取代甘氨酸而导致成骨不全的婴儿的临床病理特征
中华医学杂志，1992;29(2):112-8。
- PubMed ID
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1613761 (PubMed视图］
- 摘要
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本文研究了3例因I型胶原蛋白α 1(I)链三螺旋结构域甘氨酸被缬氨酸取代而导致的围产期致死性成骨不全(OI II)婴儿的特征。病例1 (OI35)在残基1006处为杂合，病例2 (OI59)为973，病例3 (OI7B)为256。OI35的临床表现最为严重，为oiic，可出现胎膜早破、严重的产前出血、死产、严重的短肢侏儒症和极度骨质疏松症。OI59是一个更好的婴儿，但也早产，由于胎膜早破和严重的产前出血。她有成骨不全的影像学特征。OI7B足月出生，也具有OI IIA的影像学特征。OI35和OI59的骨骼病理检查显示严重缺乏膜内和软骨内成骨。长骨和椎骨中骨小梁稀疏。小梁包含一个软骨核心和一层编织骨或类骨。骨干缺乏皮质骨。 The periosteal fibroblasts of OI35 contained grossly distended rough endoplasmic reticulum consistent with the 53% reduction in collagen secretion by cultured dermal fibroblasts. The aorta, skin, and lungs were hypoplastic in OI35 and OI59. The findings in this study show that glycine substitutions by valine in Gly-X-Y triplets, from glycine 256 to glycine 1006, of the triple helical domain of alpha 1(I) chains produce the OI II phenotype. The phenotype was most severe in the baby with the most carboxy-terminal substitution.