1/5. Chronic hemolytic anemia associated with glucose 6-phosphate dehydrogenase (Guadalajara)1 159 C --> T (387 Arg --> Cys) deficiency associated with Gilbert syndrome in a Turkish patient.The case of an 8-year-old male child with severe kernicterus sequelae is presented in this paper. The child's hemoglobin value varied between 6.0 and 10.8 g/dL and his reticulocyte count ranged between 3.4 and 46.0% during the steady-state condition and hyperhemolytic crisis, respectively. A chronic hemolytic type of red cell G6PD deficiency was diagnosed. dna studies indicate that the mutation was G6PD Guadalajara 1159 C --> T (387 Arg --> Cys) that is situated at the nadp binding site. Additionally, extra nucleotides of (TA) in the A(TA)n TAA motif of the promoter region of the uridine diphosphate-glucuronosyltransferase gene (UGT-1 A) were found to be homozygous in the patient. The coexistence of Gilbert syndrome with a chronic type of G6PD deficiency was suggested as a cause of neonatal hyperbilirubinemia leading to kernicterus.- - - - - - - - - - ranking = 1keywords = hemolytic (Clic here for more details about this article) |
2/5. Bilirubin encephalopathy in a term infant after planned home delivery.A term infant was delivered at home by his father after a pregnancy which involved no organized medical care. By the third day of life the infant developed fever, poor feeding and severe jaundice. The infant was found to have a serum indirect bilirubin of 49 mg/dl secondary to isoimmune hemolytic anemia due to anti-c antibody. The infant survived but suffers from clinical manifestations of kernicterus.- - - - - - - - - - ranking = 0.16666666666667keywords = hemolytic (Clic here for more details about this article) |
3/5. Auditory brainstem response detects early bilirubin neurotoxicity at low indirect bilirubin values.When sedation, prematurity or other disease processes mask symptoms in the clinically ill newborn, serum bilirubin concentration is monitored as the sole indicator of kernicterus risk. This case emphasizes the value of auditory brainstem responses for the management of indirect hyperbilirubinemia complicated by prematurity, hemolytic anemia, asphyxia, and direct hyperbilirubinemia.- - - - - - - - - - ranking = 0.16666666666667keywords = hemolytic (Clic here for more details about this article) |
4/5. Hemolytic jaundice due to G6PD deficiency causing kernicterus in a female newborn.glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited deficiency of an enzyme necessary to protect the erythrocyte from oxidative stress and hemolysis. Without this enzyme, affected neonates are at risk for acute onset of hemolytic jaundice and severe sequelae, from hearing loss and mild retardation to kernicterus. In some populations, especially in blacks and those of Mediterranean ancestry, the incidence of G6PD deficiency has been reported to be as high as 10% to 14%. We describe a female newborn who had acute onset of hyperbilirubinemia leading to kernicterus in the first week of life. Investigation proved G6PD deficiency. This case suggests a need to screen for this disease or to follow serial bilirubin levels in populations at risk.- - - - - - - - - - ranking = 0.16666666666667keywords = hemolytic (Clic here for more details about this article) |
5/5. A case of kernicterus in new zealand: a predictable tragedy?A case of neonatal kernicterus due to glucose-6-phosphate dehydrogenase deficiency (G6PD) is described. diagnosis was delayed as the primary healthcare attendant had no knowledge of this condition and its potential to cause rapidly escalating levels of bilirubin and as she was reassured by the lack of signs of systemic illness or anaemia. The baby has been left deaf, blind, intellectually handicapped, epileptic and paralysed due to athetoid cerebral palsy. The re-organization of perinatal care in new zealand, which has led to neonates sometimes being managed solely by primary healthcare attendants with minimal training in paediatrics may have increased the risk of a late diagnosis of potentially devastating diseases such as this.- - - - - - - - - - ranking = 0.0057981645109709keywords = anaemia (Clic here for more details about this article) |