A Complicated Pregnancy in an Adult with HNF4A p.R63W-Associated Fanconi Syndrome
Joint Authors
Anyiam, Oluwaseun
Wallin, Elizabeth
Kaplan, Felicity
Lawrence, Christopher
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-12-26
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Anyiam, Oluwaseun& Wallin, Elizabeth& Kaplan, Felicity& Lawrence, Christopher. 2019. A Complicated Pregnancy in an Adult with HNF4A p.R63W-Associated Fanconi Syndrome. Case Reports in Medicine،Vol. 2019, no. 2019, pp.1-5.
https://search.emarefa.net/detail/BIM-1137249
Modern Language Association (MLA)
Anyiam, Oluwaseun…[et al.]. A Complicated Pregnancy in an Adult with HNF4A p.R63W-Associated Fanconi Syndrome. Case Reports in Medicine No. 2019 (2019), pp.1-5.
https://search.emarefa.net/detail/BIM-1137249
American Medical Association (AMA)
Anyiam, Oluwaseun& Wallin, Elizabeth& Kaplan, Felicity& Lawrence, Christopher. A Complicated Pregnancy in an Adult with HNF4A p.R63W-Associated Fanconi Syndrome. Case Reports in Medicine. 2019. Vol. 2019, no. 2019, pp.1-5.
https://search.emarefa.net/detail/BIM-1137249
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1137249