ArticleCase reports in medicine2019
A Complicated Pregnancy in an Adult with HNF4A p.R63W-Associated Fanconi Syndrome.
Article in Case reports in medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 5 citations in OpenAlex.
- 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
- Corticosteroid-induced bradycardia in multiple sclerosis and maturity-onset diabetes of the young due to hepatocyte nuclear factor 4-alpha mutation: A case report.World journal of clinical cases · 2022Article
- 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
Renal Fanconi syndrome (RFS) is characterised by generalised dysfunction of the proximal renal tubules, resulting in excessive urinary loss of solutes, most notably bicarbonate, and type II (proximal) renal tubular acidosis. It is a rare condition, and literature around its management through pregnancy is limited. We present the management of a 37-year-old woman with RFS secondary to the HNF4A p.R63W mutation, through her third pregnancy. She presented at 28 + 5 weeks with dehydration, low serum bicarbonate, and profound metabolic acidosis. Daily infusions of sodium bicarbonate were necessary, and the requirements increased throughout the pregnancy. She also demonstrated both fasting hypoglycaemia and episodes of postprandial hyperglycaemia which required complex management. Due to concerns around fetal health, an elective caesarean section was performed at 34 weeks, delivering a healthy baby girl. This case highlights the potential complexity of pregnancy in patients with RFS and the need for a multidisciplinary approach to its management.
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Registered trials
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