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肿瘤诱导的骨软化症

Tumor-induced osteomalacia.

作者信息

Yin Zinan, Du Juan, Yu Fan, Xia Weibo

机构信息

Department of Endocrinology, Key Laboratory of Endocrinology, The National Commission of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.

出版信息

Osteoporos Sarcopenia. 2018 Dec;4(4):119-127. doi: 10.1016/j.afos.2018.12.001. Epub 2018 Dec 12.

Abstract

Tumor-induced osteomalacia (TIO), also known as oncogenic osteomalacia, is a rare paraneoplastic syndrome characterized by hypophosphatemia resulting from decreased tubular phosphate reabsorption, with a low or inappropriately normal level of active vitamin D. The culprit tumors of TIO could produce fibroblast growth factor 23 which plays a role in regulating renal Pi handling and 25-hydroxyvitamin D 1α-hydroxylase activity. Chronic hypophosphatemia could eventually lead to inadequate bone mineralization, presenting as osteomalacia. The diagnosis should be considered when patients manifest as hypophosphatemia and osteomalacia, or rickets and needs to be differentiated from other disorders of phosphate metabolism, such as the inhereditary diseases like X-linked hypophosphataemic rickets, autosomal dominant hypophosphataemic rickets, autosomal recessive hypophosphataemic rickets and acquired diseases like vitamin D deficiency. Localization of responsible tumors could be rather difficult since the vast majority are very small and could be everywhere in the body. A combination of thorough physical examination, laboratory tests and imaging techniques should be applied and sometimes a venous sampling may come into handy. The technology of somatostatin-receptor functional scintigraphy markedly facilitates the localization of TIO tumor. Patients undergoing complete removal of the causative neoplasm generally have favorable prognoses while a few have been reported to suffer from recurrence and metastasis. For those undetectable or unresectable cases, phosphate supplements and active vitamin D should be administrated and curative intended radiotherapy or ablation is optional.

摘要

肿瘤诱导的骨软化症(TIO),也称为致癌性骨软化症,是一种罕见的副肿瘤综合征,其特征是肾小管磷重吸收减少导致低磷血症,同时活性维生素D水平低或正常但不适当。TIO的致病肿瘤可产生成纤维细胞生长因子23,其在调节肾脏磷处理和25-羟维生素D 1α-羟化酶活性中起作用。慢性低磷血症最终可导致骨矿化不足,表现为骨软化症。当患者表现为低磷血症和骨软化症或佝偻病时应考虑诊断,并且需要与其他磷代谢紊乱相鉴别,例如遗传性疾病如X连锁低磷性佝偻病、常染色体显性低磷性佝偻病、常染色体隐性低磷性佝偻病以及获得性疾病如维生素D缺乏症。由于绝大多数致病肿瘤非常小且可能遍布全身,因此确定其位置可能相当困难。应综合应用全面的体格检查、实验室检查和成像技术,有时静脉采样可能会有所帮助。生长抑素受体功能闪烁显像技术显著有助于TIO肿瘤的定位。接受致病肿瘤完全切除的患者通常预后良好,不过据报道少数患者会复发和转移。对于那些无法检测到或无法切除的病例,应给予磷补充剂和活性维生素D,可选择进行根治性放疗或消融治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6177/6372818/b7e99b0c7fd0/egi10FKNH7QL8F.jpg

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