摘要
目的分析范可尼综合征(Fanconi syndrome,FS)的病因、发病机制、临床表现及治疗。方法采用病例回顾的方式,讨论FS的临床特征、实验室诊断标准及治疗。结果本例无明显先天疾病可查,成年后起病,且无家族史,以多发性骨痛为突出表现,伴有明显身高缩短及低磷骨软化症的临床表现,辅助检查提示低血钾、低分子蛋白尿、肾性糖尿、氨基酸尿、尿酸化实验提示II型肾小管酸中毒,故考虑继发性FS。结论 FS病因多种,成人起病的FS以继发性多见,应早期发现、早期防治。
Objective To review the etiologies,pathogenesis,clinical manifestations and treatment of Fanconi syndrome（FS）.Methods Through revisting a case,we further discussed the clinical characteristic,diagnosis criteria and treatment of FS.Results We reported a 45 years old woman with multiple bone pain,short stature and the features of hypophosphatemic osteomalacia.Laboratory test showed hypokalemia,low-molecular-weight proteinuria,renal glucosuria,aminoaciduria and proximal renal tubular acidosis.All these accorded with the diagnosis of FS.We considered the diagnosis of secondary FS because of deficiency of congenital diseases.Conclusion The etiology of FS is various.In adults,the acquired forms are the main cause of FS.
出处
《中国误诊学杂志》
CAS
2012年第6期1261-1263,共3页
Chinese Journal of Misdiagnostics
