A Complicated Pregnancy in an Adult with HNF4A p.R63W-Associated Fanconi Syndrome.
Journal
Case reports in medicine
ISSN: 1687-9627
Titre abrégé: Case Rep Med
Pays: United States
ID NLM: 101512910
Informations de publication
Date de publication:
2019
2019
Historique:
received:
15
07
2019
accepted:
11
11
2019
entrez:
18
1
2020
pubmed:
18
1
2020
medline:
18
1
2020
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 31949432
doi: 10.1155/2019/2349470
pmc: PMC6944970
doi:
Types de publication
Case Reports
Langues
eng
Pagination
2349470Informations de copyright
Copyright © 2019 Oluwaseun Anyiam et al.
Déclaration de conflit d'intérêts
The authors declare that they have no conflicts of interest.
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