A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis


Yavas A. K. , Cavdarli B., Uzun Ö. , Uncuoglu A. , Gunduz M.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.33, sa.5, ss.665-669, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 33 Konu: 5
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1515/jpem-2019-0314
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayıları: ss.665-669

Özet

Background: Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an uncommon cholestatic liver disease caused by mutations in the ATP binding cassette sub-family B member 4 (ABCB4) gene. Although PFIC3 is frequently identified in childhood, ABCB4 disease-causing alleles have been described in adults affected by intrahepatic cholestasis of pregnancy, hormone-induced cholestasis, low-phospholipid-associated cholelithiasis syndrome or juvenile cholelithiasis, cholangiocarcinoma and in sporadic forms of primary biliary cirrhosis. Cholestanol is a biomarker which is elevated especially in cerebrotendinous xanthomatosis and rarely in primary biliary cirrhosis (PBC) and Niemann Pick type C.