Reyskens M, Sleurs K, Verresen L, Janssen M, van den Bergh J, Geusens P
University Hasselt, Diepenbeek, Belgium,
Osteoporos Int. 2015 Jul;26(7):2039-42. doi: 10.1007/s00198-015-3090-5. Epub 2015 Apr 24.
An unusual case of a 75-year-old man is presented who had multiple stress fractures due to adult onset hypophosphatemic osteomalacia, which was the result of Fanconi syndrome, with light chain cast proximal tubulopathy due to multiple myeloma. A 75-year-old man presented with diffuse pain and muscle weakness. He had multiple stress fractures, low serum phosphate, decreased renal tubular reabsorption of phosphate, and normal PTH and FGF23, indicating adult onset hypophosphatemic osteomalacia. Phosphate supplements with calcitriol resulted in clinical recovery and healing of stress fractures. Because of proteinuria, a renal biopsy was performed that revealed Fanconi syndrome with light chain cast proximal tubulopathy and light kappa chains were found in serum and urine. A bone biopsy confirmed the diagnosis of multiple myeloma, and treatment with chemotherapy resulted in cytological and clinical recovery.
本文报告了一例75岁男性的罕见病例，该患者因成人起病的低磷性骨软化症出现多处应力性骨折，其病因是范科尼综合征，同时合并因多发性骨髓瘤导致的轻链管型近端肾小管病。一名75岁男性出现弥漫性疼痛和肌肉无力。他有多处应力性骨折、血清磷酸盐水平低、肾小管对磷酸盐的重吸收减少，甲状旁腺激素（PTH）和成纤维细胞生长因子23（FGF23）正常，提示成人起病的低磷性骨软化症。补充磷酸盐及骨化三醇后临床症状恢复，应力性骨折愈合。由于蛋白尿，进行了肾活检，结果显示为范科尼综合征合并轻链管型近端肾小管病，血清和尿液中发现轻链κ链。骨活检确诊为多发性骨髓瘤，化疗治疗后细胞学和临床症状均恢复。
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