ABSTRACT
Introduction: Renal Fanconi syndrome describes a general dysfunction of the proximal tubules characterized by urinary losses of water, electrolytes, low-molecular weight proteins, aminoacids and glucose. The heterogeneity of its underlying causes has complicated the understanding of renal Fanconi syndrome for many years. Recent studies of its isolated form, only affecting the proximal tubule and no other nephron segments, allow new insights into the understanding of pathophysiology and development of disease models.
Areas covered: In this review, we discuss the most recent insights into pathophysiology of renal Fanconi syndrome as well as novel disease and potential developments of new therapeutic strategies.
Expert opinion: The importance of fatty acid oxidation in proximal tubules in human disease has just recently been established. So far this has not yet led to pharmaceutical development of medicines, due to lack of understanding of the exclusive use of fatty acids by mitochondria in the proximal tubule for energy generation. Nevertheless, novel insights have resulted in potential targets for development of new therapeutic strategies.
Article highlights
General clinical management of RFS is based on proper diagnosis and should aim to compensation of renal solute losses including vitamin D and phosphate supplements as needed.
Cystinosis: A new treatment target, transcription factor EB (TFEB), has been suggested recently.
Targeting mitochondrial protein import problems in ATP deficiency related RFS has been suggested.
Targeting mTORC1 signalling in autophagy-related RFS has been suggested.
Anti-apoptotic therapy for fumaric acid ester induced RFS, tyrosinemia type I and cystinosis has been suggested.
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Declaration of interest
The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.