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Pregnancy complicated by refractory severe hypercholanaemia from sodium taurocholate co‐transporting polypeptide deficiency
Author(s) -
Wu Christine,
Smet MariaElisabeth,
Heath Susan,
Curnow Jennifer,
Lin MingWei,
George Jacob,
Alahakoon Thushari I.
Publication year - 2021
Publication title -
journal of obstetrics and gynaecology research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 50
eISSN - 1447-0756
pISSN - 1341-8076
DOI - 10.1111/jog.14568
Subject(s) - medicine , cholestasis of pregnancy , ursodeoxycholic acid , cholestyramine , pregnancy , context (archaeology) , cholestasis , bile acid , refractory (planetary science) , gastroenterology , fetus , paleontology , genetics , physics , cholesterol , astrobiology , biology
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.