低磷骨软化症为突出表现的范可尼综合征1例报告并文献复习
Fanconi syndrome with hypophosphatemic osteomalacia: a case report an literature review
李欣 1刘芳 1丁致民1
作者信息
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.
Abstract
Objective To review the etiologies, pathogenesis, clinical manifestations and treatment of Fanconi syn-drome(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 consid-ered the diagnosis of secondary FS because of deficiency of congenital diseases. Conclusion The etiology of FS is va-rious. In adults,the acquired forms are the main cause of FS.
关键词
范科尼综合征/并发症/骨软化症/并发症/病例报告Key words
Fanconi Syndrome/complications/Osteomalacia/complications/Case Reports引用本文复制引用
出版年
2012
NETL
NSTL
维普
万方数据