Osteogenesis imperfecta in two litters of dachshunds
Osteogenesis imperfecta in two litters of dachshunds
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DOI：
10.1354/vp.40-5-530
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发表时间：
2003-09-01
影响因子：
2.4
通讯作者：
Hewicker-Trautwein, M
中科院分区：
文献类型：
--
作者：
Seeliger, F;Leeb, T;Hewicker-Trautwein, M
对5只患有成骨不全（OI）的粗皮腊肠犬半同胞进行了临床、形态、超微结构和遗传学研究。临床体征包括疼痛、自发性骨折和牙齿骨折、关节过度松弛和X线片显示骨密度降低。乳牙的壁非常薄而且易碎。该疾病的标志是严重的骨质减少，其特征在于长骨、颅骨和脊柱中的板层骨形成受损。无畸形或侏儒症。骨骺和干骺端的软骨细胞柱和初级小梁组织学正常。在所有动物的骨髓和皮质区，继发性松质骨和板层骨形成的突然失败是明显的。少数存在的骨小梁由编织骨组成。破骨细胞或骨陷窝的数量和大小没有增加。在牙齿中，牙本质层很薄，缺乏管状图案。超微结构上，骨表面的类骨质沉积减少，少数成骨细胞中存在少量大的细胞质空泡。I型胶原蛋白编码基因COL1A1和COL1A2的分子分析显示，与已发表的犬序列相比，有几个核苷酸差异，但对OI无显著性。因此，这些腊肠犬窝仔中的OI的特征为严重的全身性骨质减少和牙本质减少。这种骨形成减少的模式提示I型胶原蛋白的产生缺陷。
A clinical, morphologic, ultrastructural, and genetic study was performed on five rough-coated dachshund semisiblings with osteogenesis imperfecta (OI). Clinical signs consisted of pain, spontaneous bone and teeth fractures, joint hyperlaxity, and reduced bone density on radiography. Primary teeth were extremely thin-walled and brittle. The hallmark of the disease was a severe osteopenia characterized by impairment of lamellar bone formation in the long bones, skull, and vertebral column. No deformity or dwarfism was present. The columns of chondrocytes and primary trabeculae in the epiphyses and metaphyses were histologically normal. An abrupt failure of secondary spongiosa and lamellar bone formation was evident in the medullary and cortical zones in all animals. The few existing trabeculae consisted of woven bone. There was no increase in the number and size of osteoclasts or lacunae. In the teeth, the dentine layers were thin and lacked a tubular pattern. Ultrastructurally, osteoid apposition on bone surfaces was reduced, and small numbers of large cytoplasmic vacuoles were present in a few osteoblasts. Molecular analyses of the collagen type I-encoding genes COL1A1 and COL1A2 revealed several nucleotide differences compared with the published canine sequences but were not significant for OI. Therefore, OI in these Dachshund litters was characterized by a severe, generalized osteopenia and dentinopenia. This pattern of reduced bone formation is suggestive of defective production of collagen type I.