Dhaliwal Ruban, Dhiman Vandana, Rao Sudhaker D, Bhadada Sanjay Kumar
Endocrinology, Diabetes & Metabolism, State University of New York Upstate Medical University, Syracuse, New York.
Department of Endocrinology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
J Clin Endocrinol Metab. 2019 Sep 1;104(9):4005-4015. doi: 10.1210/jc.2018-01180.
Fibrogenesis imperfecta ossium (FIO) is a rare and progressive skeletal bone disorder of undetermined etiology. Given its rareness, the pathogenesis of FIO remains elusive and no effective treatment exists. Based on review of all published cases and our collective experience of FIO, we offer a comprehensive approach for the diagnosis and management of this complex and fatal disorder.
A review of electronic and print medical literature comprising case reports and articles retrieved from PubMed database up to March 2018 was conducted using the search term "fibrogenesis imperfecta." In addition, references from retrieved case reports and articles were screened for articles containing information on FIO and differential diagnoses.
Twenty-six articles containing information concerning 29 cases were identified. We reviewed the clinical and pathophysiologic features of all published cases. Comprehensive information on FIO is lacking in the literature. Diagnostic approach, in an attempt to gain insight into the disease, differed depending on the advancements in science and tools available at the time of patient identification. The response to various treatments used has been widely variable.
The dearth of information on FIO and low index of suspicion may lead to delayed or missed diagnoses and management. The fundamental skeletal defect appears to be an abnormality in organic matrix of bone characterized by defective mineralization of the abnormal collagen. Research focused on the identification of pathogenetic factors is needed. Although long-term outcomes of GH therapy are yet to be ascertained, short-term effectiveness appears promising.
骨纤维生成不全（FIO）是一种病因不明的罕见且进行性骨骼疾病。鉴于其罕见性，FIO的发病机制仍不清楚，且不存在有效的治疗方法。基于对所有已发表病例的回顾以及我们对FIO的总体经验，我们提供了一种针对这种复杂且致命疾病的诊断和管理的综合方法。
使用搜索词“骨纤维生成不全”对电子和印刷医学文献进行回顾，包括从PubMed数据库检索到的截至2018年3月的病例报告和文章。此外，对检索到的病例报告和文章的参考文献进行筛选，以查找包含FIO信息和鉴别诊断的文章。
确定了26篇包含29例相关信息的文章。我们回顾了所有已发表病例的临床和病理生理特征。文献中缺乏关于FIO的全面信息。为了深入了解该疾病，诊断方法因患者确诊时科学和可用工具的进展情况而异。对所使用的各种治疗的反应差异很大。
关于FIO的信息匮乏以及低怀疑指数可能导致诊断和管理的延迟或遗漏。基本的骨骼缺陷似乎是骨有机基质的异常，其特征是异常胶原蛋白矿化缺陷。需要开展侧重于确定致病因素的研究。尽管生长激素治疗的长期结果尚未确定，但短期有效性似乎很有前景。
