engleski

Clinical manifestations of the glucose -6- phosphate dehydrogenase deficiency in Dalmatia

Aim To determine the most frequent clinical manifestations of glucose-6-phosphate dehydrogenase(G6PD) deficiency in Dalmatian patients. Materials and methods Retrospective data analysis of 16 patients treated due to G6PD deficiency at the Department of Pediatric of the University Hospital Split and three previous studies in Dalmatia that were done. In these three studies the fluorescent spot test was used to screen 2726 randomly selected, male and female, high school students in Dalmatia, 302 randomly selected males in the city of Komiža on the island of Vis and 513 male children which had neonatal hyperbilirubinemia of the unclear cause. All positive screening samples were quantitatively measured using spectrophotometric method. Results G6PD deficiency was found in 183 cases, 118 (64.4%) males and 65 (35.6%) females. Clinical manifestations were presented in 45.3% (83/183) patients. The acute hemolytic anemia after consumption of fava beans (favism) was observed in 24.6% (45/83) cases and neonatal hyperbilirubinemia in 20.7% (38/83) children with G6PD deficiency. Unexpectedly seven of the patients which had favism were females. Conclusions The clinical manifestations of G6PD deficiency include: acute drug or infection induced hemolytic anemia, favism, neonatal hyperbilirubinemia and chronic non-spherocytic hemolytic anemia. Among Dalmatian patients only favism and neonatal hyperbilirubinemia have been observed. Neonates with G6PD deficiency have an increased incidence of severe hyperbilirubinemia. Therefore, an earlier beginning of therapy and monitoring is necessary in newborns with G6PD-associated jaundice compared to jaundice from other causes. Screening for G6PD deficiency should be considered in all infants with severe hyperbilirubinemia of the unclear cause.

glucose 6 phospahte dehydrogenase deficiency; clinical manifestations; Dalmatia;

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