Fainting Fanconi syndrome clarified by proxy: a case report

BMC Nephrology

Case Report

William van’t Hoff¹  Detlef Bockenhauer²  Robert Kleta²  Khalid Hussain³  Stephen Benedict Walsh⁴  Robert Unwin⁴  Paul Bass⁴  Sian Ellard⁵ 

[1] Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK;Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK;UCL Centre for Nephrology, Renal Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, WC1N 3JH, London, UK;Sidra Medical Centre, Doha, Qatar;UCL Centre for Nephrology, Renal Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, WC1N 3JH, London, UK;University of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, UK;

关键词: Renal Fanconi syndrome;    Hyperinsulinism;    Hypoglycaemia;    HNF4A;    Mitochondrial cytopathy;    Genetic testing;   

DOI  :  10.1186/s12882-017-0649-8

 received in 2016-11-09, accepted in 2017-06-28,  发布年份 2017

来源: Springer

【 摘 要 】

BackgroundRare 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 presentationWe report a case of renal Fanconi syndrome associated with intermittent hypoglycemic episodes, the specific cause for which remained elusive for over 30 years, despite numerous investigations, including three kidney and one liver biopsy. The most recent kidney biopsy showed dysmorphic mitochondria, suggesting a mitochondrial disorder. When her son presented with hypoglycemia in the neonatal period, he underwent routine genetic testing for hyperinsulinemic hypoglycemia, which revealed a specific mutation in HNF4A. Subsequent testing of the mother confirmed the diagnosis also in her.ConclusionModern sequencing technologies that test multiple genes simultaneously enable specific diagnoses, even if the underlying disorder was not clinically suspected. The finding of mitochondrial dysmorphology provides a potential clue for the mechanism, by which the identified mutation causes renal Fanconi syndrome.

【 授权许可】

CC BY   
© The Author(s). 2017