Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany.
Int Urol Nephrol. 2011 Dec;43(4):1107-15. doi: 10.1007/s11255-011-9914-0. Epub 2011 Mar 1.
Renal Fanconi syndromes are both clinically challenging and physiologically fascinating. The diagnosis requires a certain index of suspicion to correctly identify the clinical symptomatology and pursue the appropriate laboratory evaluations. The renal Fanconi syndrome (FS) is a defect of proximal tubular function attributable to different rare inherited diseases or acquired disorders caused by a multitude of exogenous agents. It can manifest as complete or incomplete FS, characterized by low molecular weight proteinuria, glucosuria, aminoaciduria, and loss of electrolytes, bicarbonate and lactate. Implementation of new methods and recent findings from urinary proteome pattern in patients with renal FS has led to the identification of new markers for proximal tubular dysfunction. Future combined proteomic and metabonomic studies will provide additional potential biomarkers and may help to gain novel insights in the diagnosis and differentiation of the various forms of FS. Moreover, the observation of poor renal uptake of 99 mTc-DMSA in patients with tubular proteinuria, which is not fully understood yet, may also help to elucidate the individual basis of FS in early stages. This review focuses on the new advances in the evaluation of proximal tubular dysfunction in various forms of Fanconi syndrome.
肾性范可尼综合征兼具临床挑战性和生理学趣味性。诊断需要一定程度的怀疑指数，以正确识别临床症状并进行适当的实验室评估。肾性范可尼综合征（FS）是近端肾小管功能的缺陷，归因于多种罕见的遗传性疾病或由多种外源性物质引起的获得性疾病。它可以表现为完全或不完全 FS，特征是低分子量蛋白尿、糖尿、氨基酸尿和电解质、碳酸氢盐和乳酸盐的丢失。在肾性 FS 患者的尿蛋白质组模式中采用新方法和最新发现，导致了近端肾小管功能障碍的新标志物的鉴定。未来的联合蛋白质组学和代谢组学研究将提供额外的潜在生物标志物，并可能有助于在诊断和区分各种形式的 FS 方面提供新的见解。此外，对肾小管蛋白尿患者中 99mTc-DMSA 摄取不良的观察，这一点尚未完全了解，也可能有助于阐明 FS 在早期的个体基础。这篇综述重点介绍了在各种形式的范可尼综合征中评估近端肾小管功能障碍的新进展。
