ReviewJournal of medical case reports2018
HNF4A-related Fanconi syndrome in a Chinese patient: a case report and review of the literature.
Review in Journal of medical case reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 18 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
- Syndromic forms of congenital hyperinsulinism.Frontiers in endocrinology · 2023Review
- HNF1A Mutations and Beta Cell Dysfunction in Diabetes.International journal of molecular sciences · 2022Review
- A Review of Functional Characterization of Single Amino Acid Change Mutations in HNF Transcription Factors in MODY Pathogenesis.The protein journal · 2021Review
- 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
- Clinical manifestation and genetic findings in three boys with low molecular Weight Proteinuria - three case reports for exploring Dent Disease and Fanconi syndrome.BMC nephrology · 2021Article
- Hyperechoic Content of the Fetal Colon Is Not Always Cystinuria-Case Report.Frontiers in pediatrics · 2021Article
- Helping nephrologists find answers: hyperinsulinism and tubular dysfunction: Answers.Pediatric nephrology (Berlin, Germany) · 2020Article
- Article
- 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
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe p.R63W mutation in hepatocyte nuclear factor-4 alpha (HNF4A) leads to a heterogeneous group of disorders with various clinical presentations. Recently, patients with congenital hyperinsulinism and Fanconi syndrome due to the p.R63W mutation in HNF4A have been described. Although other clinical variations such as liver dysfunction have been associated with HNF4A mutations, hearing impairment has not previously been associated. We report the case of a patient with Fanconi syndrome and hyperinsulinemic hypoglycemia caused by the mutation of HNF4A presenting with additional auditory phenotypes. CASE PRESENTATION: We present a case report of a 10-year-old girl of Chinese Han ethnicity who presented with renal Fanconi syndrome, infantile hyperinsulinemic hypoglycemia, and transient cholestasis. In addition, she presented with bilateral severe hearing loss. Gene analysis showed a heterozygous p.R63W mutation in the HNF4A gene that is responsible for Fanconi syndrome and hyperinsulinemic hypoglycemia.
conclusionsThis is the first case of HNF4A mutation associated with an auditory phenotype. It expands the clinical phenotypes and supports speculation in the literature that HNF4A may be a candidate gene for deafness. In conclusion, hearing loss may be found in children with HNF4A-related Fanconi syndrome, and auditory function should be assessed.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.