变种:区分布鲁克综合征1型和骨质发育不完善性XI型之间的区别
Gülümay Vural Topaktaş1, Berna Eroğlu Filibeli1, Hakan Birinci1
1İzmir City Hospital, Pediatric Endocrinology Clinic, İzmir, Türkiye.
Journal of clinical research in pediatric endocrinology
|November 17, 2025
概括
双性FKBP10变体会导致一系列骨脆弱性障碍,包括Osteogenesis Imperfecta型XI和Bruck综合征型1. 这些与FKBP10相关的疾病呈现出连续性,挑战不同的诊断,并需要长期监测演变的表型.
科学领域:
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
- 临床医学 临床医学
背景情况:
- 双性FKBP10变体与自体逆性骨质发育不完善型XI (OI-XI) 和布鲁克综合征1型 (BS-1) 相关.
- 这两种情况都以骨脆弱为特征,但BS-1也出现关节收缩,造成诊断重叠.
- 了解FKBP10相关疾病的表型谱对于准确的诊断和管理至关重要.
研究的目的:
- 介绍FKBP10相关疾病的两例,突出显示BS-1和OI-XI之间的表型连续.
- 为了说明重叠的临床特征所带来的诊断挑战.
- 强调长期跟踪在识别演变的表型方面的重要性.
主要方法:
- 对两名患有FKBP10变异的儿科患者的病例报告分析.
- 临床表型,包括骨折史,关节收缩,脊椎病,以及对治疗的反应.
- 基因检测以确定引起FKBP10变异的原因.
主要成果:
- 案例1:一种新的同卵性FKBP10变体 (c.603T>A) 证实了BS-1的骨折和渐进的收缩,对双酸盐无反应.
- 案例2:一种致病性同卵性FKBP10变体 (c.890_897dupTGATGGAC) 证实OI-XI有骨折但没有收缩;患者用双酸盐得到改善.
- 这些发现表明FKBP10相关疾病的表型连续性,而不是不同的实体.
结论:
- 与FKBP10相关的疾病代表了一种表型连续性,挑战了BS-1和OI-XI之间的清晰诊断分离.
- 临床特征,如BS-1中的合和脊椎病,可能会随着时间的推移而表现或进展,需要谨慎监测.
- 准确的诊断和有效的管理取决于识别这些不断变化的表型和FKBP10相关的骨脆弱性谱.
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