继发性Fanconi综合征1例并文献复习

Secondary Fanconi syndrome:a case report and review of the literature

Fanconi综合征(FS)一般分为原发性FS和继发性FS两类,原发性FS多伴有其他先天性疾病,继发性FS可由多种病因引起。本文报道1例59岁女性患者,22年前因反复骨关节疼痛诊断为低血磷抗维生素D骨软化症。近期骨关节疼痛加重,有蛋白尿、血糖正常而尿糖排出增多、尿钾排出增多,高氯性酸中毒及电解质紊乱,这些符合Fanconi综合征的诊断,且患者无明显先天性疾病可查,因此,可诊断为继发性Fanconi综合征。甲状旁腺彩超、CT和SPECT均提示,在甲状旁腺增生的基础上形成了自主功能性结节,经补充中性磷酸盐和活性维生素D_3,血磷和ALP恢复正常或基本正常,但血清PTH仍明显升高,说明甲状旁腺的PTH分泌已经具有一定程度的自主性,因而高度考虑三发性甲状旁腺功能亢进症可能。X线片检查显示胸廓、脊柱和骨盆畸形,骨密度测量显示骨密度明显降低,因此还考虑伴有骨质软化并骨质疏松症。

Fanconi syndrome （FS） is generally classified into primary and secondary forms. Primary FS is usu- ally accompanied by congenital diseases and the secondary one could be caused by many factors. We report a 59-years-old female woman with recrudoscent bone and joint pain, diagnosed as ＂vitamin D resistant osteomalacia＂ 22 years ago. At present, she had severe bone pain, protein urine, normal blood glucose and glucosuria, kaliuresis, hyperchloride acidosis and electrolyte disturbances. All these accorded with the diagnosis of secondary FS because of deficiency of congenital dis- eases. Serum IYI＇H was significantly increased, and parathyroid uhrasonography, CT and SPECT hinted the existence of independent nodules based on parathyroid hyperplasia, with the recovery of serum phosphate and alkaline phosphate and the persistence of elevated serum PTH, a strong indication for independent PTH secretion from parathyroid after secondary hyperparathyroidism, so tertiary hyperparathyroidism should be considered. X-ray imaging of bones revealed bony thorax, spine and basin malformation and measurement of bones by dual-energy X-ray absorptiometry revealed a significant de- crease in bone mineral density, a condition of osteomalacia complicated by osteoporosis.