Articles with "renal fanconi" as a keyword



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

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Published in 2017 at "Expert Opinion on Orphan Drugs"

DOI: 10.1080/21678707.2017.1259560

Abstract: 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… read more here.

Keywords: current treatments; renal fanconi; fanconi syndrome; pathophysiology current ... See more keywords

A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to endā€stage kidney disease

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Published in 2022 at "Clinical Genetics"

DOI: 10.1111/cge.14235

Abstract: Renal Fanconi syndrome (RFS) is a generalised disorder of the proximal convoluted tubule. Many genes have been associated with RFS including those that cause systemic disorders such as cystinosis, as well as isolated RFS. We… read more here.

Keywords: gatm; renal fanconi; novel variant; kidney ... See more keywords
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Nephrolithiasis and Osteomalacia associated with adefovir-induced Fanconi syndrome in a patient with hepatitis B

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Published in 2017 at "BMC Nephrology"

DOI: 10.1186/s12882-017-0693-4

Abstract: BackgroundAn increasing number of case reports suggest that acquired renal Fanconi syndrome may be associated with prolonged use of adefovir against hepatitis B virus. Renal Fanconi syndrome is an uncommon disease, and its complication with… read more here.

Keywords: renal fanconi; hepatitis; nephrolithiasis; fanconi syndrome ... See more keywords