成纤维细胞生长因子 23 相关性低磷血症骨软化症的获得性形式。

IF 3.9 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Endocrinology and Metabolism Pub Date : 2024-04-01 Epub Date: 2024-03-11 DOI:10.3803/EnM.2023.1908
Nobuaki Ito, Naoko Hidaka, Hajime Kato
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引用次数: 0

摘要

成纤维细胞生长因子 23(FGF23)是调节血清磷酸盐水平的关键性体液因子,首次在常染色体显性低磷血症佝偻病和肿瘤诱发骨软化症(TIO)患者中被发现,这是最常见的获得性 FGF23 相关低磷血症佝偻病/骨软化症(FGF23rHR)。在发现 FGF23 之后,又有许多其他遗传性和获得性 FGF23rHR 的报道。在这篇综述文章中,讨论了每种获得性 FGF23rHR 的详细特征,包括 TIO、异位 FGF23 综合征伴恶性肿瘤、纤维发育不良/McCune-Albright 综合征、Schimmelpenning- Feuerstein-Mims 综合征/皮肤骨骼低磷血症综合征、静脉铁制剂诱导的 FGF23rHR、饮酒诱导的 FGF23rHR 和肾移植后低磷血症。然后,简明扼要地介绍了每种疾病的鉴别诊断方法和治疗方案。目前,大多数内分泌科医生在遇到获得性 FGF23rHR 患者时可能只考虑 TIO;充分的鉴别诊断可以减少医疗费用和侵入性程序,如正电子发射断层扫描/计算机断层扫描和静脉采样,以确定 FGF23 生成肿瘤。此外,一些获得性 FGF23rHR,如静脉注射铁制剂/饮酒诱发的 FGF23rHR,只需停止服药或戒酒即可从骨质疏松症中完全恢复。
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Acquired Forms of Fibroblast Growth Factor 23-Related Hypophosphatemic Osteomalacia.

Fibroblast growth factor 23 (FGF23) is a pivotal humoral factor for the regulation of serum phosphate levels and was first identified in patients with autosomal dominant hypophosphatemic rickets and tumor-induced osteomalacia (TIO), the most common form of acquired FGF23-related hypophosphatemic rickets/osteomalacia (FGF23rHR). After the identification of FGF23, many other inherited and acquired forms of FGF23rHR were reported. In this review article, the detailed features of each acquired FGF23rHR are discussed, including TIO, ectopic FGF23 syndrome with malignancy, fibrous dysplasia/McCune-Albright syndrome, Schimmelpenning-Feuerstein-Mims syndrome/cutaneous skeletal hypophosphatemia syndrome, intravenous iron preparation-induced FGF23rHR, alcohol consumption-induced FGF23rHR, and post-kidney transplantation hypophosphatemia. Then, an approach for the differential diagnosis and therapeutic options for each disorder are concisely introduced. Currently, the majority of endocrinologists might only consider TIO when encountering patients with acquired FGF23rHR; an adequate differential diagnosis can reduce medical costs and invasive procedures such as positron emission tomography/computed tomography and venous sampling to identify FGF23-producing tumors. Furthermore, some acquired FGF23rHRs, such as intravenous iron preparation/alcohol consumption-induced FGF23rHR, require only cessation of drugs or alcohol to achieve full recovery from osteomalacia.

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来源期刊
Endocrinology and Metabolism
Endocrinology and Metabolism Medicine-Endocrinology, Diabetes and Metabolism
CiteScore
6.60
自引率
5.90%
发文量
145
审稿时长
24 weeks
期刊介绍: The aim of this journal is to set high standards of medical care by providing a forum for discussion for basic, clinical, and translational researchers and clinicians on new findings in the fields of endocrinology and metabolism. Endocrinology and Metabolism reports new findings and developments in all aspects of endocrinology and metabolism. The topics covered by this journal include bone and mineral metabolism, cytokines, developmental endocrinology, diagnostic endocrinology, endocrine research, dyslipidemia, endocrine regulation, genetic endocrinology, growth factors, hormone receptors, hormone action and regulation, management of endocrine diseases, clinical trials, epidemiology, molecular endocrinology, neuroendocrinology, neuropeptides, neurotransmitters, obesity, pediatric endocrinology, reproductive endocrinology, signal transduction, the anatomy and physiology of endocrine organs (i.e., the pituitary, thyroid, parathyroid, and adrenal glands, and the gonads), and endocrine diseases (diabetes, nutrition, osteoporosis, etc.).
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