The diagnostic dilemma of tumor induced osteomalacia: a retrospective analysis of 144 cases
The diagnostic dilemma of tumor induced osteomalacia: a retrospective analysis of 144 cases
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肿瘤性骨软化症的诊断困境：144例回顾性分析
DOI：
10.1507/endocrj.ej16-0587
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发表时间：
2017-01-01
影响因子：
2
通讯作者：
Xia, Wei-bo
中科院分区：
文献类型：
--
作者：
Feng, Juan;Jiang, Yan;Xia, Wei-bo
肿瘤性骨软化症（TIO）的诊断延迟在临床实践中很常见。为了了解国内TIO的诊断情况，提高临床医生对TIO的认识，我们回顾性分析了1982年12月至2014年12月北京协和医院144例TIO的临床表现、生化特征，并对漏诊和误诊进行了特别评价。TIO的临床表现主要为骨痛、行走困难、病理性骨折、肌无力、身高下降。TIO患者表现为低磷血症（0.48±0.13 mmol/L），血清碱性磷酸酶升高（277.9±152.6 U/L），小管最大磷/肾小球滤过率降低（0.39±0.14），血清成纤维细胞生长因子23 （FGF23）显著升高（中位水平302.9 pg/mL）。从发病到正确诊断的平均时间为2.9±2.3年，从发病到肿瘤切除的平均时间为5.4±4.2年。144例患者的初误诊率为95.1%(137/144)，共误诊240例次。最常见的误诊是椎间盘突出、脊柱炎（包括强直性脊柱炎）和骨质疏松症。共有43.1%（62/144）的低磷血症患者被忽视或漏诊。我们的研究表明，由于TIO罕见，发病隐匿，临床表现不特异性，临床医生认识不佳，极易误诊和漏诊。有肌肉骨骼症状和行走困难的患者有必要检测血清磷。血清FGF23的测定是很有价值的。一旦发现低磷血症，应怀疑TIO，强烈建议寻找肿瘤并进行治疗性手术。
Diagnostic delay of tumor induced osteomalacia (TIO) is common in clinic practice. To investigate the diagnostic condition of TIO in China and raise clinicians' awareness of TIO, we retrospectively analyzed clinical manifestations, biochemical features, and specially evaluated missed diagnoses and misdiagnoses among 144 TIO patients from Peking Union Medical College Hospital during December 1982 to December 2014. Clinical presentations of TIO mainly included bone pain, difficulty in walking, pathological fractures, muscle weakness, and height loss. TIO patients demonstrated hypophosphatemia (0.48±0.13 mmol/L), elevated serum alkaline phosphatase (277.9±152.6 U/L), reduced tubular maximum for phosphorus/glomerular filtration rate (0.39±0.14) and markedly elevated serum fibroblast growth factor 23 (FGF23) (median level 302.9 pg/mL). The average time from onset to a correct diagnosis was 2.9±2.3 years while the mean duration from onset to tumor resection was 5.4±4.2 years. The initial misdiagnosis rate was 95.1% (137/144) and 240 case-times of misdiagnoses occurred among the 144 cases. The most frequent misdiagnoses were intervertebral disc herniation, spondyloarthritis (including ankylosing spondylitis) and osteoporosis. A total of 43.1% (62/144) cases with hypophosphatemia presented on their laboratory sheets were neglected and missed diagnosed. Our study showed that TIO was frequently misdiagnosed and missed diagnosed due to its rarity, insidious onset, nonspecific clinical manifestations and clinicians' poor recognition. It is necessary to test serum phosphorus in patients with musculoskeletal symptoms and difficulty in walking. The measurement of serum FGF23 is rather valuable. Once hypophosphatemia is discovered, TIO should be suspected and it is highly recommended to search for tumors and perform curative surgery.