Fanconi syndrome: new perspectives and preventive strategies

Fanconi syndrome (FS) is a renal disorder characterized by proximal tubular dysfunction, leading to the excessive loss of electrolytes, glucose, amino acids, and other vital solutes in urine. This review explores new perspectives on FS, examining its genetic, acquired, and systemic etiologies, as well as emerging preventive and therapeutic strategies. Key genetic mutations, including those in NaPi-II, EHHADH, HNF4A, and CTNS, have been identified as pivotal in disrupting cellular energy production and ion transport, contributing to the varied clinical presentation of FS. Acquired causes, such as nephrotoxicity from antiretroviral medications and systemic autoimmune diseases like lupus, underscore the complex interactions that can precipitate secondary FS. Diagnostic advances, from biomarker screening to genetic testing, and novel immunomodulatory treatments have opened avenues for precise and timely management of FS. Preventive strategies, including genetic counseling, early screening for at-risk populations, and drug dose optimization, show promise in mitigating the risk of FS development. This chapter highlights the need for a multidisciplinary approach in understanding and managing this heterogeneous syndrome.