Citrin deficiency is an autosomal recessive disorder caused by mutation in the SLC25AJ3 gene. It has two major phenotypes: adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestatic caused by citrin deficiency (NICCD). NICCD is characterized by neonatal/infantile-onset cholestatic hepatitis syndrome associated with multiple amino acidemia and hypergalactosemia. NICCD is sel...

Pruritus is frequently reported by patients with cholestatic hepatobiliary diseases such as primary biliary cirrhosis, primary sclerosing cholangitis, intrahepatic cholestasis of pregnancy and hereditary cholestatic syndromes, but may accompany almost any other liver disease. Increased concentrations of bile salts, histamine, progesterone metabolites or endogenous opioids have been controversia...

liver injury occurs with many drugs; therefore, a thorough work up is important for establishing the diagnosis. we report a case of trifluoperazine-induced cholestatic jaundice. a 44-year old male with schizoaffective disorder developed an increase in liver enzymes and jaundice after starting treatment with trifluoperazine. workup for other potential etiologies was negative.

Pruritus is a common symptom in patients with cholestatic liver diseases such as primary biliary cirrhosis, primary sclerosing cholangitis, intrahepatic cholestasis of pregnancy, or hereditary pediatric cholestatic disorders and may accompany, although less frequently, many other liver diseases. Recent findings indicate that lysophosphatidic acid (LPA), a potent neuronal activator, and autotaxi...

Transport of endogenous and exogenous substances from blood to bile is an essential function of the liver. In the last decade a still growing number of specific transport proteins present at the sinusoidal and canalicular membrane domains of hepatocytes and cholangiocytes have been cloned and functionally characterized. Studies assessing the molecular expression and function of these hepatobili...

Antithyroid drugs have been used for more than 50 years for the management of hyperthyroidism. Most patients tolerate treatment well but some may develop life-threatening side effects such as agranulocytosis, aplastic anemia and cholestatic hepatitis. A 45-year-old female was diagnosed with severe hyperthyroidism. Treatment with Carbimazole 30 mg/day was initiated. Within six weeks following th...

Azithromycin, a semisynthetic macrolides, is frequently prescribed for the treatment of middle ear and upper respiratory tract infections, bronchitis, and community-acquired pneumonia. This antibiotic is usually well tolerated, and a rapid resolving cholestatic hepatitis has been described up to now only in six patients all, except one, over 65 years of age. We here report the case of a prolong...