Intrahepatic cholestasis of pregnancy in conjunction with a frameshift deletion in FGFR4 - 27/03/22
, Matthias Christian Reichert aBenvenuto su EM|consulte, il riferimento dei professionisti della salute.
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Abstract |
Intrahepatic cholestasis of pregnancy (ICP) is characterized by increased serum bile acid levels in the third trimester of pregnancy and resolves quickly after delivery. Here, we present the case of a 29-year-old woman who developed idiopathic liver damage during puberty, and subsequently ICP and severe pruritus during two pregnancies. DNA sequencing revealed a heterozygous deletion (c.393_delG) in the fibroblast growth factor receptor 4 (FGRF4) gene causing a premature stop codon. The resulting FGFR4 haploinsufficiency is likely to impede the enterohepatic feedback repression of hepatic bile acid synthesis via FXR and FGF19. It represents a new genetic etiology of ICP.
Il testo completo di questo articolo è disponibile in PDF.Keywords : Bile acids, Fibroblast growth factor receptor 4, Gene variant, Intrahepatic cholestasis of pregnancy
Abbreviations : ABC, ALT, AST, ATP8B1, BA, FGF/FGFR, FXR, ICP, UDCA
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Vol 46 - N° 3
Articolo 101800- Marzo 2022 Ritorno al numero
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