ArticleBMC nephrology2017
Fainting Fanconi syndrome clarified by proxy: a case report.
Article in BMC nephrology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 16 citations in OpenAlex.
- Phenotypic Spectrum of HNF4α-Associated Fanconi Renotubular Syndrome.Kidney international reports · 2026Article
- Presence of mitochondrial dysfunction in a case of Fanconi syndrome with normoglycemic MODY1.CEN case reports · 2025Article
- De novo HNF4A-associated atypical Fanconi renal tubulopathy syndrome.Journal of nephrology · 2024Article
- Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes.Molecular syndromology · 2023Article
- Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas.American journal of medical genetics. Part A · 2021Article
- Hyperechoic Content of the Fetal Colon Is Not Always Cystinuria-Case Report.Frontiers in pediatrics · 2021Article
- Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management.Reviews in endocrine & metabolic disorders · 2020Review
- Article
- A Complicated Pregnancy in an Adult with HNF4A p.R63W-Associated Fanconi Syndrome.Case reports in medicine · 2019Article
- HNF4A-related Fanconi syndrome in a Chinese patient: a case report and review of the literature.Journal of medical case reports · 2018Review
- Salt-Losing Tubulopathies in Children: What's New, What's Controversial?Journal of the American Society of Nephrology : JASN · 2018Review
- A Case of Hyperinsulinemic Hypoglycaemia Associated with Atypical Fanconi Renal Tubulopathy Syndrome Caused by an HNF4A Variant.Case reports in nephrology and dialysisArticle
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 PRESENTATION: We 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.
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