Cumali Efe M.D.*, Tugrul Purnak M.D.†, Ersan Ozaslan

M.D.†, Staffan Wahlin M.D.‡, * Department of Internal Medicine, Ankara Numune Research and Education Hospital, Ankara, Turkey, † Department of Gastroenterology, Ankara Numune Research and Education Hospital, Ankara, Turkey, ‡ Department of Gastroenterology and Hepatology, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden. “
“Cholestasis with normal gamma glutamyl transferase characterizes functional deficiencies in the gene ABCB11, which encodes the bile salt export pump (BSEP), a liver-specific adenosine triphosphate (ATP)-binding selleck chemicals cassette transporter. Here we report the case of a patient presenting with features of benign recurrent intrahepatic cholestasis associated with a heterozygous mutation in the ABCB11 gene. Immunohistochemistry showed a gradual decrease of BSEP from zone 1 to zone 3 of the liver lobule, suggesting that the mutation identified here may predispose patients to cholestasis through a delocalization process of BSEP at the lobular level. (HEPATOLOGY 2013;57:2539–2541) ALT, alanine aminotransferase; ATP, adenosine triphosphate; BSEP, bile salt export pump; CT, computed tomography. A 44-year-old woman presented to the hospital for evaluation of progressive jaundice and

generalized itching during the previous 6 weeks. On physical exam her temperature was 36.5°C (97.7°F), the pulse was 72/min, and blood pressure was 125/80 mmHg. The liver was normal and there was no ascites. Examination PF-01367338 cell line of the skin revealed scratch lesions with crusts and erythema over the entire body with areas of minor injury in the mid-dorsal region that cannot be reached by hands (Fig. 1, Panel 1, dotted line). The grandmother and an aunt of this patient had had similar symptoms at the age of 40 with spontaneous resolution after several weeks. The patient had had an uneventful pregnancy 6 years earlier. She reported having suffered from gastroenteritis and having taken 500 mg acetaminophen twice during a stay in Tunisia 2 weeks before the development of jaundice. Laboratory studies revealed

a total bilirubin Resminostat of 155 μmol/L (6.7 mg/dL), alanine aminotransferase (ALT) 226 U/L, alkaline phosphatase 231 U/L, and gamma glutamyl transferase 36 U/L. Serum bile acids were elevated at 120 μmol/L (normal values <30 μmol/L). Ultrasound showed a normal liver parenchyma with a common bile duct diameter of 6 mm. An extensive diagnostic work-up including viral, autoimmune, and metabolic markers was negative. A computed tomography (CT) scan showed normal bile ducts and a large number of stones in the gallbladder (Fig. 1, Panel 2, arrow). The patient was administered antihistamine medication (hydroxyzine), rifampicin, and naltrexone without a significant improvement of her symptoms. Liver biopsy showed a normal parenchyma with major intrahepatocytic and intracanalicular cholestasis (Fig.