摘要Fanconi syndrome (FS) is a disorder that is mainly characterized by aminoaciduria,hypophosphatemia,phosphaturia,and renal hyperglycosuria,and occasionally associated with renal tubular acidosis.The disease was originally thought to be either inherited or acquired,but to date the pathogenesis of FS remains unclear.1 Therefore,FS is often misdiagnosed in clinical practice,and many cases have been incorrectly diagnosed as osteoporosis.Moreover,even in cases where the disease is correctly diagnosed,many clinicians are not familiar with FS due to the complex clinical manifestation and only understand it as an organspecific disease.2 Only a few cases have been reported to date in the literature,which describe it as a rare disease.In this study,we collected 27 cases in General Hospital of Tianjin Medical University over the past 18 years.Based on a comprehensive assessment of 10 patients using bone,kidney,and muscle biopsies,we developed a novel treatment strategy and assessed the efficacy in a subset of patients.