Author/Editor		Furlan, Danijela; Ilijaš-Trofenik, Ana; Ostanek, Barbara; Felc, Zlata; Bratanič, Borut; Lukač-Bajalo, Jana
Title		Patološka zlatenica donošenih novorojenčkov in Gilbertov sindrom
Translated title		Pathological jaundice in full-term newborns and Gilbert's syndrome
Type		članek
Source		Zdrav Vestn
Vol. and No.		Letnik 80, št. 3
Publication year		2011
Volume		str. 188-93
Language		slo
Abstract		Background: In the course of our research on polymorphism in the UGT1A1 gene of healthy full-term newborns, we studied the relationship between pathological jaundice and the newborn's genotype. The latter could be one of the risk factors for hyperbilirubinemia. The possibility of a pharmacogenetic approach for treating individuals with Gilbert's syndrome was investigated since the polymorphism may influence the toxic metabolism of certain therapeutic drugs. Methods: Blood was collected from 185 healthy full-term newborns, born in May 2009, on the third day of life. Bilirubin was measured according to the Jendrassik-Grof method and all samples were genotyped (dHPLC method). ANOVA, χ2 - test and t - test were used for statistical analysis. Results: A significant association of genotype with bilirubin levels was observed (p< 0.001), the highest bilirubin level occurring with the genotype (TA)7/7, characteristic of Gilbert 's syndrome; 68 of the 185 newborns had pathological jaundice; 20 cases were so severe that they needed phototherapy during hospitalization. Differences in bilirubin levels between the groups with clinical characteristics of jaundice were statistically significant (physiological / pathological (p< 0.001) and irradiated / nonirradiated (p = 0,034)). The genotype (TA)7/7 was significantly more frequent in the group with pathological jaundice than in the group with physiological jaundice (p = 0,028). The results confirm that Gilbert's syndrome can be one of the factors contributing to pathological jaundice in healthy full-term newborns. Conclusions: The results suggest that, besides the screening test for determining cord blood bilirubin, genetic screening should be carried out in newborns with pathological jaundice to identify individuals with Gilbert's syndrome.
Descriptors		JAUNDICE, NEONATAL POLYMORPHISM (GENETICS) GENOTYPE GILBERT'S DISEASE INFANT, NEWBORN