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Pathophysiology, current treatments and future targets in hereditary forms of renal Fanconi syndrome

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. Green open access

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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.

Type: Article
Title: Pathophysiology, current treatments and future targets in hereditary forms of renal Fanconi syndrome
Open access status: An open access version is available from UCL Discovery
DOI: 10.1080/21678707.2017.1259560
Publisher version: http://dx.doi.org/10.1080/21678707.2017.1259560
Language: English
Additional information: This is an Accepted Manuscript of an article published by Taylor & Francis in Expert Opinion on Orphan Drugs on 30 Nov 2016, available online: http://www.tandfonline.com/10.1080/21678707.2017.1259560.
Keywords: Renal Fanconi syndrome, pathophysiology, proximal tubule, mitochondria
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Renal Medicine
URI: https://discovery.ucl.ac.uk/id/eprint/1531873
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