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Influence of Gilbert's syndrome on serum bilirubin levels and gallstone formation in children with chronic hemolytic disease [Influencia del síndrome de Gilbert en los valores de bilirrubina sérica y presencia de litiasis vesicular en pacientes con hemólisis crónica congénita]

Title
Influence of Gilbert's syndrome on serum bilirubin levels and gallstone formation in children with chronic hemolytic disease [Influencia del síndrome de Gilbert en los valores de bilirrubina sérica y presencia de litiasis vesicular en pacientes con hemólisis crónica congénita]
Type
Article in International Scientific Journal
Year
2002
Authors
Costa, E
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Pinto, R
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Vieira, E
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Polo, S
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Sarmento, AM
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Oliveira, I
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Pimenta, R
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dos Santos, R
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Barbot, J
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Journal
Vol. 57
ISSN: 0302-4342
Publisher: Doyma
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Publicação em ISI Web of Knowledge ISI Web of Knowledge
Scientific classification
FOS: Medical and Health sciences
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Authenticus ID: P-007-AEK
Abstract (EN): To determine whether Gilbert's syndrome increases the risk of gallstone formation in children with chronic hemolytic disease, we studied 44 children with this diagnosis. Gallstones were detected by abdominal ultrasonography. This took place annually in scheduled examinations or in the context of acute abdominal pain. In all patients, the mean values of hemoglobin, reticulocyte and serum bilirubin in the chronic phase were recorded. In addition, TA insertion in the A(TA)nTATAA motif within the promoter region of the enzyme uridine-diphosphate-glucuronyl transferase (UGT1A1) was screened, since this is typically associated with GS. We found 10 (22.7%) homozygotes for the mutated allele TA*7/TA*7, 12 (27.3%) TA*6/TA*6 heterozygotes and 22 (50%) homozygotes for the wild-type allele TA*6/TA*6. No statistically significant differences were found in the values of hemoglobin (Kruskal-Wallis test = 2.496; p > 0.05) or in reticulocyte count (Kruskal-Wallis test = 1.696; p > 0,05) between the three groups of patients, suggesting a similar degree of hemolysis. Patients with the UGT1A1 TA*7/TA*7 genotype showed higher mean serum bilirubin levels than did patients who were homozygous for the wild-type allele (Mann-Whitney test = 35.5; p < 0.05). None of the patients with the TA*6/TA*6 genotype developed gallstones, whereas this complication was found in 2 of 12 (16.6%) heterozygotes and 6 of 10 (60%) homozygotes for the allele with TA insertion. In this latter group, 4 patients presented acute pancreatitis as a consequence of gallstone formation. The association between increased bilirubin load due to chronic hemolytic disease and diminished hepatic conjugation leads to raised serum bilirubin levels and consequently to an increased risk of gallstone formation. Therefore, we recommend screening for Gilbert's syndrome in children in the initial phases of chronic hemolytic diseases.
Language: Spanish
Type (Professor's evaluation): Scientific
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