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2013, vol. 38, iss. 2, pp. 100-103
Gilbert's syndrome in schoolchildren: A case report
aZdravstveni centar Knjaževac, Knjaževac
bDom Zdravlja Bar, Crna Gora
cDom zdravlja, Zaječar
dDom zdravlja, Doljevac
eUniveristy of Niš, Faculty of Medicine
Gilbert's syndrome is a hereditary form of unconjugated hyperbilirubinemia. The cause of hyperbilirubinemia is a reduced activity of the enzyme glucuronosyltransferase (bilirubin uridine-diphosphate- glucuronosyltransferase - B-UGT), which conjugates bilirubin and some other molecules. Gilbert's syndrome is autosomal-dominant inherited. In addition to a thorough examination of a patient, laboratory analysis and fasting and phenobarbital tests confirm the diagnosis. This paper describes a patient, RN, aged 18. He had stomach-ache and bleeding in the stools and yellow skin and mucous membranes. Laboratory testing showed elevated levels of total bilirubin, normal values of transaminases, and normal complete blood count, while urobilinogen and bilirubin in urine were negative. The patient was losing body weight due to reduced appetite and food consumption, being afraid to cause stomach-ache. The ultrasound of the upper abdomen was normal. During the period of November 2012, when the patient first came for a check, to January 2013, when examined at the Pediatric Internal Clinique Niš, the patient had elevated bilirubin, abdominal pain, rectorrhagia and jaundice, while at the same time the values of transaminases and complete blood count were within the ranges. During hospitalisation at the Clinique of Internal Medicine in Niš, Gilbert's syndrome was confirmed by means of phenobarbital and fasting tests which were both positive. It is of vital importance to identify the disease in due time. Differential diagnosis will determine whether the patient will be isolated and sent to an infectious department, or whether the therapy will be a substitution, immune or surgical one. Cholecistitis, hepatitis, hemolytic anemia, primary cancers of the digestive tract, liver metastases and disorder of bilirubin metabolism must be excluded in the differential diagnosis of jaundice syndrome by means of which Gilbert's syndrome is manifested.
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article language: Serbian
document type: Case Report
published in SCIndeks: 10/12/2013