Pregnancy complicated by refractory severe hypercholanaemia from sodium taurocholate co-transporting polypeptide deficiency.
cholestasis
metabolism inborn error
pregnancy
sodium transporter deficiency
stillbirth
Journal
The journal of obstetrics and gynaecology research
ISSN: 1447-0756
Titre abrégé: J Obstet Gynaecol Res
Pays: Australia
ID NLM: 9612761
Informations de publication
Date de publication:
Feb 2021
Feb 2021
Historique:
received:
21
09
2020
accepted:
02
11
2020
pubmed:
12
11
2020
medline:
22
6
2021
entrez:
11
11
2020
Statut:
ppublish
Résumé
Sodium taurocholate co-transporting polypeptide deficiency is a rare metabolic autosomal recessive condition resulting in critically elevated plasma bile acid levels. Hypercholanaemia in similar conditions such as intrahepatic cholestasis of pregnancy has been associated with an increased risk of adverse obstetric outcomes including stillbirth. We present the first case of Sodium taurocholate co-transporting polypeptide deficiency in a current pregnancy in a patient with one previous stillbirth in the context of severe hypercholanaemia, where conventional treatments for cholestasis including ursodeoxycholic acid, rifampicin and cholestyramine were ineffective. Therapeutic plasma exchange and novel treatment with elobixibat were trialed with mixed results. The pregnancy resulted in an iatrogenic preterm delivery of a live infant at 32 weeks gestation.
Substances chimiques
Bile Acids and Salts
0
Peptides
0
Taurocholic Acid
5E090O0G3Z
Ursodeoxycholic Acid
724L30Y2QR
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
822-826Informations de copyright
© 2020 Japan Society of Obstetrics and Gynecology.
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