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| UDK 616.36-008.8:612.357 |
ISSN 035-2899, 38(2013) br.2 p.100-103 |
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Case report Gilbert’s syndrome in schoolchildren, A case report (Žilberov sindrom kod pacijenta školskog uzrasta, Prikaz slučaja) Dragana Mitrović (1), Rajko Zdravković (2), Jovica Đorđević (1), Danijela Ćirić (4), Emilio Miletić (3), Miloš Bogoslović (5), Mladenović Miljana (6), Nataša Milović (1), Aneta Živulović (3), Ana Zlatković (1) (1) Služba za zdravstvenu zaštitu predškolske i školske dece sa medicinom sporta i savetovalištem za mlade, Zdravstveni centar Knjaževac, (2) Izabrani ljekar za djecu, Dom zdravlja Bar, (3) Služba hitne medicinske pomoći, Zdravstveni centar Knjaževac, (4) Dom zdravlja Zaječar, Služba za zaštitu zdravlja dece i omladine, (5) Dom zdravlja Doljevac, (6) Medicinski fakultet u Nišu |
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| Download in pdf format | Summary: 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. Keywords: hyperbilirubinemia, syndrome, diagnosis Napomena: kompletan tekst rada na srpskom jeziku Note: full text in Serbian |
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Corresponding Address: Dragana Mitrović, Služba za zdravstvenu zaštitu predškolske i školske dece sa medicinom sporta i savetovalištem za mlade, Zdravstveni centar Knjaževac, Vidovdanska 50, 19350 Knjaževac, Srbija; E-mail: draganamitrovic1981@gmail.com |
Paper received: 31. 3. 2013 Paper accepted: 14. 7. 2013 Paper Internet issues: 30. 10. 2013 |
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