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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

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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.
Fanconi syndrome with hypophosphatemic osteomalacia: a case report an literature review
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.

Fanconi Syndrome/complicationsOsteomalacia/complicationsCase Reports

李欣、刘芳、丁致民

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北京积水潭医院肾内科 100035

范科尼综合征/并发症 骨软化症/并发症 病例报告

2012

中国误诊学杂志
中华预防医学会 漯河市中心医院 重庆第九人民医院

中国误诊学杂志

影响因子:0.406
ISSN:1009-6647
年,卷(期):2012.12(6)
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