Klootwijk, E; Dufek, S; Issler, N; Bockenhauer, D; Kleta, R; (2017) Pathophysiology, current treatments and future targets in hereditary forms of renal Fanconi syndrome. Expert Opinion on Orphan Drugs , 5 (1) pp. 45-54. 10.1080/21678707.2017.1259560.

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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.

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