Yenidoğanlarda Metabolik Asidoz ve/veya Hiperamonemi ile Karakterli Kalıtsal Metabolik Hastalıklarda İndirekt Hiperbilirübinemi Sıklığı

Abstract

ABSTRACT KARTAL OZTURK Gokcen, Incidence of indirect hyperbilirubinemia in newborn infants with inherited metabolic diseases characterised by metabolic acidosis and/or hyperammonemia. Hacettepe University Faculty of Medicine, Department of Pediatrics, Thesis in Pediatrics. Ankara, 2015. In Turkey, the incidence of indirect hyperbilirubinemia in term newborn infants is high and it has been reported to be between 20-50% in several researchs while phototherapy incidence has been reported to be between 10-45%. In addition, due to high incidence of consanguineous marriages, the incidence of inherited metabolic diseases is also high in our country. Our hospital is a tertiary referral center for inherited metabolic diseases and for a long period of time, we have observed that in newborn infants with inherited metabolic diseases characterized by metabolic acidosis and/or hyperammonemia, the incidence of hyperbilirubinemia and/or need for phototherapy was very low. So in this study we aimed to define the incidence of neonatal jaundice (indirect hyperbilirubinemia) in newborn infants who were hospitalized for inherited metabolic diseases characterised by metabolic acidosis and/or hyperammoniemia. 106 infants were included in the study group both retrospectively and prospectively covering the period of 1 January 2001- 31 December 2014 in the Neonatal Intensive Care Unit of Hacettepe University İhsan Doğramacı Children’s Hospital. All demographic and clinical data were noted. The control group consisted of 126 healthy newborn infants who were born in the same hospital in odd days between 1 September – 31 December 2014. During the hospitalization period, all demographic and clinical data related with neonatal jaundice were noted. After discharge from the hospital and the infants completed their 28th day of life, the parents were called by phone and asked whether the infants developed jaundice after hospital discharge, serum bilirubin levels and need for phototherapy and/or exchange transfusion. In the study group, 67 (63.2%) infants had organic acidemia, 22 (20.8%) had urea cycle disorders, 5 (+.7%) had mitocondrial disease, 6 (5.7%) had fatty acid oxidation disorders and 6 (5.7%) had other diseases. In the study group, mean serum total bilirubin and indirect bilirubin levels were significantly lower than the control group (6.6±5.6 mg/dl vs 14.6±4.2 mg/dl, p<0.001 and 5.8±5.4 mg/dl vs 13.9±4.1 mg/dl, p<0.001 respectively). Phototherapy incidence was found to be 11.3% in the study group and 23.8% in the control group (p<0.05) This is the first epidemiological study in the literature, about the extremely low incidence of indirect hyperbilirubinemia in newborn infants with inherited metabolic diseases characterised by metabolic acidosis and/or hyperammonemia. This new finding should be investigated with prospective biochemical, enzymatic, molecular and genetic studies in order to define the pathophysiological mechanisms. Keywords: Indirect hyperbilirubinemia, inherited metabolic diseases, metabolic acidosis, hyperammonemia