目的:这篇综述旨在总结综合征性牙本质缺陷的最新进展,促进更好地了解牙本质畸形的系统性疾病,所涉及的分子,和相关机制。
方法:有关牙本质畸形的遗传疾病的参考文献来自各种来源,包括PubMed,OMIM,NCBI,和其他网站。然后总结了这些疾病的临床表型和遗传背景,分析,和比较。
结果:超过10种全身性疾病,包括成骨不全症,低血磷的病,依赖维生素D的病,家族性肿瘤性钙质沉着症,Ehlers-Danlos综合征,Schimke免疫骨发育不良,低磷酸盐增多症,Elsahy-Waters综合征,Singleton-Merten综合征,牙软骨发育不良,并检查了小头骨增生性原始侏儒症II型。其中大多数是骨骼疾病,它们的致病基因可能调节牙本质和骨骼发育,涉及细胞外基质,细胞分化,和钙的代谢,磷,这些综合征性牙本质缺陷的表型与所涉及的基因不同,其中一部分类似于牙本质发育不全或牙本质发育不良,而其他人只出现一种或两种类型的牙本质异常,如变色,不规则的增大或消失的牙髓和牙髓,或根畸形。
结论:一些与全身性疾病相关的特定牙本质缺陷可能是牙医诊断的重要表型。此外,对综合征性牙本质缺陷的机制研究可能为孤立的牙本质缺陷和一般牙本质发育或矿化提供有价值的见解。
OBJECTIVE: This review aimed to summarize recent progress on syndromic dentin defects, promoting a better understanding of systemic diseases with dentin malformations, the molecules involved, and related mechanisms.
METHODS: References on genetic diseases with dentin malformations were obtained from various sources, including PubMed, OMIM, NCBI, and other websites. The clinical phenotypes and genetic backgrounds of these diseases were then summarized, analyzed, and compared.
RESULTS: Over 10 systemic diseases, including osteogenesis imperfecta, hypophosphatemic rickets, vitamin D-dependent rickets, familial tumoral calcinosis, Ehlers-Danlos syndrome, Schimke immuno-osseous dysplasia, hypophosphatasia, Elsahy-Waters syndrome, Singleton-Merten syndrome, odontochondrodysplasia, and microcephalic osteodysplastic primordial dwarfism type II were examined. Most of these are bone disorders, and their pathogenic genes may regulate both dentin and bone development, involving extracellular matrix, cell differentiation, and metabolism of calcium, phosphorus, and vitamin D. The phenotypes of these syndromic dentin defects various with the involved genes, part of them are similar to dentinogenesis imperfecta or dentin dysplasia, while others only present one or two types of dentin abnormalities such as discoloration, irregular enlarged or obliterated pulp and canal, or root malformation.
CONCLUSIONS: Some specific dentin defects associated with systemic diseases may serve as important phenotypes for dentists to diagnose. Furthermore, mechanistic studies on syndromic dentin defects may provide valuable insights into isolated dentin defects and general dentin development or mineralization.