LRP5受体错义突变导致骨质疏松、骨折和失明。

IF 1.7 Q2 ORTHOPEDICS
Jake Littman, Chanika Phornphutkul, Celine Saade, Julia Katarincic, Roy Aaron
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引用次数: 1

摘要

家族性渗出性玻璃体视网膜病变(FEVR)是一种遗传性疾病,其表现包括骨质疏松、多发性骨折和视网膜血管生成不完全,如果不及时治疗,可导致视网膜脱离和失明。本文讨论了两名儿童兄弟姐妹的病例,他们因多处骨折来到骨科就诊,通过跨学科治疗,诊断为FEVR,并在永久性视力损害之前进行了适当的治疗。本文描述了发热出血热的骨骼表现,这在以前的文献中没有深入探讨。一位兄弟姐妹在运动时发生闭合性桡骨远端骨折,向骨科服务部门进行评估。全面的病史显示他一生中至少有四次阑尾骨折,双能x线吸收仪(DEXA)扫描显示他的骨密度在他的年龄中处于第一个百分位数。同时对其弟弟进行评估,发现有类似的多处骨折和低骨密度病史。转介遗传服务和随后的全外显子组测序显示,兄弟姐妹的LRP5基因可能存在致病性变异,这是导致骨骼表现的唯一已知的feevr致病突变。虽然FEVR在遗传学和眼科领域是众所周知的,但在骨科领域,对FEVR和其他易导致儿童骨折的遗传疾病有更大的认识是必要的。这将减少儿童遗传疾病患者的后遗症,并提高跨学科的专业知识。这些兄弟姐妹的故事说明,在治疗患有骨质疏松症和生长迟缓的儿童时,高度怀疑遗传疾病是必不可少的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Osteoporosis, Fractures, and Blindness Due to a Missense Mutation in the LRP5 Receptor.

Osteoporosis, Fractures, and Blindness Due to a Missense Mutation in the LRP5 Receptor.

Osteoporosis, Fractures, and Blindness Due to a Missense Mutation in the LRP5 Receptor.

Osteoporosis, Fractures, and Blindness Due to a Missense Mutation in the LRP5 Receptor.

Familial exudative vitreoretinopathy (FEVR) is a genetic disorder whose presentation can include osteoporosis, multiple fractures, and incomplete retinal angiogenesis leading to retinal detachment and blindness if left untreated. Discussed herein are the cases of two pediatric siblings who presented to the orthopedic service with multiple fractures and, through interdisciplinary management, were diagnosed with FEVR and treated appropriately before permanent visual impairment. The skeletal manifestations of FEVR, which have not been explored in depth in prior literature, are described. One sibling presented to orthopedic services for evaluation of a closed distal radius fracture sustained while playing sports. A comprehensive history revealed he had suffered at least four appendicular fractures in his lifetime, and dual-energy x-ray absorptiometry (DEXA) scan revealed his bone density to be in the first percentile for his age. Concurrent evaluation of his younger sibling revealed a similar history of multiple fractures and low bone density. Referral to genetic services and ensuing whole-exome sequencing revealed a likely pathogenic variant in both siblings' LRP5 gene, the only known causative mutation for FEVR that leads to skeletal manifestations. While FEVR is well known in genetic and ophthalmologic settings, greater awareness of FEVR and other genetic disorders that predispose to fractures in pediatric populations is warranted in orthopedic settings. This will lead to reduced sequelae in pediatric patients with genetic disorders and improved interdisciplinary expertise. The story of these siblings illustrates that a high index of suspicion for genetic diseases is essential when treating children with osteoporosis and growth delays.

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来源期刊
Orthopedic Research and Reviews
Orthopedic Research and Reviews Medicine-Orthopedics and Sports Medicine
CiteScore
2.80
自引率
0.00%
发文量
51
审稿时长
16 weeks
期刊介绍: Orthopedic Research and Reviews is an international, peer-reviewed, open-access journal focusing on the patho-physiology of the musculoskeletal system, trauma, surgery and other corrective interventions to restore mobility and function. Advances in new technologies, materials, techniques and pharmacological agents will be particularly welcome. Specific topics covered in the journal include: Patho-physiology and bioengineering, Technologies and materials science, Surgical techniques, including robotics, Trauma management and care, Treatment including pharmacological and non-pharmacological, Rehabilitation and Multidisciplinarian care approaches, Patient quality of life, satisfaction and preference, Health economic evaluations. The journal welcomes submitted papers covering original research, basic science and technology, clinical studies, reviews and evaluations, guidelines, expert opinion and commentary, case reports and extended reports.
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