Benign recurrent intrahepatic cholestasis type 2 in a child: A case report and novel mutation
Turkish Archives of Pediatrics, cilt.56, sa.1, ss.72-74, 2021 (ESCI, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 56 Sayı: 1
- Basım Tarihi: 2021
- Doi Numarası: 10.14744/turkpediatriars.2020.74507
- Dergi Adı: Turkish Archives of Pediatrics
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.72-74
- Anahtar Kelimeler: ABCB11, bile salt export pump, child, cholestatic jaundice, mutation, pruritus
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Benign recurrent intrahepatic cholestasis is a rare disorder characterized by recurrent epi-sodes of cholestatic jaundice without liver damage. A mutation in the ABCB11 gene encoding bile salt export pump protein causes the disease. A 16-year-old boy with severe jaundice is presented here. His laboratory tests were consistent with intrahepatic cholestasis despite hav-ing normal gamma-glutamyl transpeptidase levels. Acute and chronic liver diseases with viral, metabolic, and autoimmune etiology were excluded. Magnetic resonance imaging revealed normal intra-and extrahepatic bile ducts. A liver biopsy showed cholestasis in the centrilobu-lar and intermediate zones and sinusoidal dilatation. Genetic testing revealed a homozygous c.3083_3084delCAinsTG (Ala1028Val) mutation in the ABCB11 gene. The patient was treated with ursodeoxycholic acid 20 mg/kg/day and cholestyramine 4 g twice daily, and total bilirubin decreased to normal ranges after two months of therapy. This mutation (c.3083_3084delCAin-sTG) in the ABCB11 gene is the first reported in a patient with benign recurrent intrahepatic cholestasis type 2.