The aim of this study was to identify new pathogenic variations of the UGT1A1 gene in 11 patients diagnosed with neonatal unconjugated hyperbilirubinemia. We describe two cases in which clinically unapparent heterozygotic mutations in the UGT1A1 gene may become evident in combination with certain environmental conditions or additional genetic defects.

IntRoductIon Gilbert syndrome (GS, MIM #143500) is characterized by fluctuating mild, unconjugated hyperbilirubinemia <85 μmol/L and is caused by mutations in the bilirubin uridine diphosphate (UDP)‐glucuronosyltransferase gene (UGT1A1).[1] Dubin‐Johnson syndrome (DJS, MIM #237500) is characterized by fluctuating mild, predominantly conjugated hyperbilirubinemia and is caused by mutations in th...

Serum bilirubin concentrations are increased in several hematological and hepatic disorders; however, hyperbilirubinemia, often of familial origin, may occur without overt signs of hemolysis or evident liver disease. The authors review briefly the main steps of hepatic bilirubin metabolism, then discuss the pathogenetic mechanisms of the different forms of familial hyperbilirubinemia. The knowl...

Kernicterus is a preventable but devastating neurologic disorder with life long complications. It is caused by severe and inadequately treated hyperbilirubinemia during the newborn period. In the present paper potential causes and risk factors for the occurrence of kernicterus related to the Thai health system that are responsible for the care of newborn infants before and after discharge are d...

Severe unconjugated hyperbilirubinemia, seen mainly in neonates, may cause kernicterus and death. Conventional treatment for severe unconjugated hyperbilirubinemia consists of phototherapy and exchange transfusion. Phototherapy, however, has several known disadvantages while exchange transfusion is associated with a significant morbidity, and even mortality. These harmful effects indicate the n...

OBJECTIVE The recognition, follow-up, and early treatment of neonatal jaundice has become more difficult, since the earlier discharge of newborns from hospitals has become common practice. This prospective study was undertaken to identify the newborns at risk for developing significant hyperbilirubinemia later during the first days of life by measuring the serum bilirubin levels of the first 5 ...

One of the causes infant death outside womb is hyperbilirubinemia. This hyperbilirubinemia a clinical phenomenon often found in newborns first week life. In laboratory examination, determination hemoglobin level an indicator that widely used to determine prevalence anemia. study uses observation method with descriptive approach. The data collection this research was carried out at RSIA Pertiwi ...

Background: The effects of magnesium physiology are contradictory to the neurotoxic effect of bilirubin, but the relationship between magnesium level and hyperbilirubinemia in neonates has not been well studied. In this study, we investigated the relationship between serum magnesium level and hyperbilirubinemia and hyperbilirubinemia complications at the Children’s Medical Center. Methods: In ...

UNLABELLED With the universal hearing screening we can prevent auditory disorders in children. AIM To characterize the program of neonatal auditory screening into a population of neonates. MATERIALS AND METHODS longitudinal cohort study. We surveyed the clinic's database on neonatal auditory screening in the city of Porto Velho, Rondônia. RESULTS Among the 6,889 newborns in the database, ...

Crigler-Najjar syndrome type II is a rare familial disorder of bilirubin conjugation with consecutive life-long unconjugated hyperbilirubinemia. In the presence of severe hyperbilirubinemia, a fetus or an adult is at risk for neurological defects in this syndrome. This paper is the first report emphasizing details about this disorder in two patients from Turkey. The diagnosis was made on the ba...