Crigler Najjar Syndrome Type 2: a Case of Unexplained Jaundice in an Adult

Crigler-Najjar Syndrome (CNS) type 2 is a rare genetic disorder which is characterized by non-hemolytic unconjugated hyperbilirubinaemia. It is caused by defect in bilirubin conjugation due to complete or partial deficiency of uridine 5'-diphosphate-glucuronosyltransferase (UGT). Affected individuals are usually asymptomatic apart from the jaundice and investigations reveal isolated indirect hyperbilirubinemia. Genetic testing of the UGT1A1 gene for mutations is the definitive diagnostic tool which is not available everywhere. It can be alternatively diagnosed by evaluating the response to phenobarbitone in terms of fall in bilirubin level. Here, we report one such rare case. Faridpur Med. Coll. J. Jan 2020;15(1): 43-45

Dynamics of the indices of liver biligenetic function in reply to skeletal, cranial-cerebral and combined traumas in the early period of the traumatic disease

<p>In the period of the early signs of the traumatic disease after the experimental skeletal, cranial-cerebral and<br />combined traumas the abnormality of the liver biligenetic function occurs, which could be seen by the decrease of the<br />general bile acids forming, the bilirubin conjugation and the cholesterol accumulation. The discovered abnormalities<br />of the liver biligenetic function are the biggest after 7 days of the posttraumatic in the conditions of the combined<br />cranial-skeletal trauma. During this period, the observations of deviance of the indices under investigation against<br />a background of the skeletal and cranial-cerebral trauma are identical.</p>