engleski

Determination of G-6-PD in infants with hyperbilirubinemia of undetermined etiology in the Republic of Macedonia, preliminary results

Aim Approximately 200 milion people worldwidw are estimated to suffer from G-6-PD deficiency with a significant difference in the incidence rate, depending on the region where they live. In Macedonia the incidence of G-6-PD deficiency was estimated 6% among Roma male children, and 1 % among Macedonians. Infants with G6PD deficiency suffer from hyperbilirubinemia significantly more frequently than those in control groups. The screening method for G-6-PD deficiency used at our Clinic showed low level of detection. Aim of study was to introduce a new, more sensitive quantitative method for G-6-PD detection and evaluate the level of G-6-PD in a group of infants with indirect hyperbilirubinemia/and or prolonged jaundice of undetermined etiology. Materials and methods The studied group is part of a large national study underway on the incidence of G-6-PD deficiency among children with hyperbilirubinemia of undetermined etiology. A group of 30 infants that were hospitalized at the University Pediatric Clinic neonatal department was prospectively evaluated. The study involved a questionnaire, clinical examination of subjects and laboratory analyses. Inclusion criteria were: term newborns, excluded other determined causes of jaundice, serum biliruin level higher oh 257 umol/l ( 15 mg/dL) and/or prolonged jaundice after one month. A quantitative spectrophotometric method was used for G-6-PD detection. Results The study group included 17 (56, .%) boys and 13 (43.3%) girls with median age of 30 (19-42.5) days. The mean +/- SD of G-6-PD was 217.69 ( +/- 53.29) mU/mL and the median (interquartile range) serum levels of G-6-PD were (0.05-0.35) mU/mL in zhe studied group. Conclusion These are preliminary results of G-6-PD testing in Macedonian infants with jaundice. A larger group has to be evaluated in order to produce reference values for G-6-PD in neonates and infants from the Republic of Macedonia and to astimate the incidence rate of this enzyme deficiency.

G-6-PD deficiency; hyperbilirubinemia; Republic of Macedonia

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