Fainting Fanconi syndrome clarified by proxy: a case report

Fainting Fanconi syndrome clarified by proxy: a case report

Abstract Background Rare diseases may elude diagnosis due to unfamiliarity of the treating physicians with the specific disorder. Yet, advances in genetics have tremendously enhanced our ability to establish specific and sometimes surprising diagnoses. Case presentation We report a case of renal Fan...

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Bibliographic Details
Main Authors: Stephen Benedict Walsh, Robert Unwin, Robert Kleta, William van’t Hoff, Paul Bass, Khalid Hussain, Sian Ellard, Detlef Bockenhauer
Format: Article
Language:English
Published: BMC 2017-07-01
Series:BMC Nephrology
Subjects:
Renal Fanconi syndrome
Hyperinsulinism
Hypoglycaemia
HNF4A
Mitochondrial cytopathy
Genetic testing
Online Access:http://link.springer.com/article/10.1186/s12882-017-0649-8

Internet

http://link.springer.com/article/10.1186/s12882-017-0649-8

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