Division of Nephrology and Endocrinology, The University of Tokyo Hospital, Tokyo, Japan.
Osteoporosis Center, The University of Tokyo Hospital, Tokyo, Japan.
Endocrinol Metab (Seoul). 2024 Apr;39(2):255-261. doi: 10.3803/EnM.2023.1908. Epub 2024 Mar 11.
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.
成纤维细胞生长因子 23(FGF23)是调节血清磷酸盐水平的关键体液因子,最初在常染色体显性低磷血症性佝偻病和肿瘤诱导性骨软化症(TIO)患者中被发现,TIO 是获得性 FGF23 相关低磷血症性佝偻病/骨软化症(FGF23rHR)最常见的形式。在发现 FGF23 之后,报道了许多其他遗传性和获得性形式的 FGF23rHR。在这篇综述文章中,详细讨论了每种获得性 FGF23rHR 的特征,包括 TIO、伴恶性肿瘤的异位 FGF23 综合征、纤维发育不良/McCune-Albright 综合征、Schimmelpenning-Feuerstein-Mims 综合征/皮肤性骨骼低磷血症综合征、静脉铁制剂诱导的 FGF23rHR、酒精摄入诱导的 FGF23rHR 和肾移植后低磷血症。然后,简要介绍了每种疾病的鉴别诊断和治疗选择。目前,大多数内分泌学家在遇到获得性 FGF23rHR 患者时可能只考虑 TIO;充分的鉴别诊断可以降低医疗费用和侵袭性程序,如正电子发射断层扫描/计算机断层扫描和静脉取样,以识别产生 FGF23 的肿瘤。此外,一些获得性 FGF23rHR,如静脉铁制剂/酒精摄入诱导的 FGF23rHR,仅需停止药物或酒精即可使骨软化症完全恢复。