Cholestasis may result from a failure in bile secretion in hepatocytes or ductular cells, or from a blockade to the free bile flow. Human cholestasis may be induced by many drugs, being antibiotics the more common. Other types of cholestasis seen in humans are a group of familial cholestatic disorders, obstructive cholestasis, primary biliary cirrhosis, extrahepatic biliary atresia, primary scl...

А im: to highlight the importance of broad differential diagnosis and possibility conversion benign recurrent intrahepatic cholestasis type 2 into more aggressive clinical phenotype. Key points. A 19-year-old female patient was admitted Clinic with skin pruritus, jaundice, dark urine, clay-colored stool, general fatigue. Past medical history significant for aforementioned symptoms since 3 years...

Progressive familial intrahepatic cholestasis type 2 (PFIC 2) results from mutations in ABCB11 gene coding bile salt export pump (BSEP). Medical treatment is usually unsuccessful and surgery intervention is necessary. Partial external biliary diversion (PEBD) is regarded as the first choice of surgical treatment. Ileal exclusion (IE) is an alternative operation if external stoma is not tolerate...

Refractory vitamin E deficiency is thought to have irreversible effects on neurologic function. We report an adolescent boy with severe refractory vitamin E deficiency due to progressive familial intrahepatic cholestasis (PFIC) type 2. His consequent neurologic dysfunction included severe ataxia, dysmetria, dysarthria, and cranial nerve VI palsy. He underwent liver transplantation at age 13 due...

A2.5-year-old girl underwent orthotopic liver transplantation (OLT) for cirrhosis secondary to progressive familial intrahepatic cholestasis. She was well until five days posttransplantation when she developed fever (up to 39 °C). At that time, she was receiving tacrolimus, cellcept and prednisolone. Her laboratory findings revealed a serum ALT of 70 IU/L, AST of 75 IU/L, Alk-P of 560 IU/L, and...

Background and Aim: In spite of the rising usage whole exome or genome sequencing, certain patients with cholestatic liver disease do not manifest any identified genetic causes. However, a recent discovery has Kinesin-like protein KIF12 (KIF12) as potential candidate gene responsible for specific form progressive familial intrahepatic cholestasis (PFIC), known PFIC 8. The encodes Kinesin-relate...