Brain Injuries ; etiology ; prevention & control ; Humans ; Hyperbilirubinemia ; complications ; prevention & control

Hemochromatosis ; etiology ; genetics ; Hepatolenticular Degeneration ; etiology ; genetics ; Humans ; Hyperbilirubinemia, Hereditary ; etiology

Anemia, Sideroblastic ; congenital ; diagnosis ; therapy ; Child ; Erythrocyte Transfusion ; Female ; Humans ; Hyperbilirubinemia ; etiology

We recently encountered a case of hereditary spherocytosis coexisting with Gilbert's syndrome. Patient was initially diagnosed with Gilbert's syndrome and observed, but other findings suggestive of concurrent hemolysis, such as splenomegaly and gallstones were noted during the follow-up period. Therefore, further evaluations, including a peripheral blood smear, osmotic fragility test, autohemolysis test, and red blood cell membrane protein test were performed, and coexisting hereditary spherocytosis was diagnosed. Genotyping of the conjugation enzyme uridine diphosphate-glucuronosyltransferase was used to confirm Gilbert's syndrome. Because of the high prevalence rates and similar symptoms of these 2 diseases, hereditary spherocytosis can be masked in patients with Gilbert's syndrome. In review of a case and other article, the possibility of the coexistence of these 2 diseases should be considered, especially in patients with unconjugated hyperbilirubinemia who also have splenomegaly and gallstones.
Adult ; Erythrocytes/physiology ; Gallstones/etiology ; Genotype ; Gilbert Disease/complications/*diagnosis/genetics ; Glucuronosyltransferase/genetics ; Hemolysis ; Humans ; Hyperbilirubinemia/etiology ; Male ; Polymorphism, Single Nucleotide ; Spherocytosis, Hereditary/complications/*diagnosis/genetics ; Splenomegaly/etiology

OBJECTIVETo study association of uridine-diphosphate-glucuronosyltransferase1A1 (UGT1A1) Gly71Arg, UGT1A1 promoter TATA-box and glucose-6-phosphate dehydrogenase (G6PD) gene mutations with the occurrence of neonatal unconjugated hyperbilirubinemia.

METHODSThe TATA-box, exon 1 and exon 5 of the UGT1A1 gene and the exon 12 of G6PD gene were amplified by PCR. The products of PCR were analyzed by direct DNA sequencing. Clones for the mutations of the UGT1A1 gene and the G6PD gene were constructed in order to identify the results of the products of PCR. Seventy-two neonates with unconjugated hyperbilirubinemia (case group) and 65 healthy neonates (control group) were enrolled. The genotypes and allele frequencies of the polymorphisms of UGT1A1 Gly71Arg and UGT1A1 TATA-box were compared between the two groups. The effects of UGT1A1 Gly71Arg, UGT1A1 promoter TATA-box and G6PD gene mutations on the development of neonatal unconjugated hyperbilirubinemia were estimated using logistic regression models.

RESULTSThere were significant differences in the genotype distribution of Gly71Arg polymorphism of UGT1A1 gene between the case and control groups (P<0.01). The Arg allele frequency of the polymorphisms of UGT1A1 gene in the case group was significantly higher than in the control group (P<0.01). There were no significant differences in the genotype distribution of the UGT1A1 promoter TATA-box between the two groups (P>0.05). The OR and 95%CI values of UGT1A1 Gly71Arg, UGT1A1 TATA-box and G6PD gene mutations associated with the development of neonatal unconjugated hyperbilirubinemia were 5.468 (2.274, 12.818), 0.688 (0.266, 1.778) and 5.081 (1.070, 24.133) respectively.

CONCLUSIONSUGT1A1 Gly71Arg and G6PD gene mutations may be involved in the development of neonatal unconjugated hyperbilirubinemia.

Glucosephosphate Dehydrogenase ; genetics ; Glucuronosyltransferase ; genetics ; Humans ; Hyperbilirubinemia, Neonatal ; etiology ; genetics ; Infant, Newborn ; Mutation ; Polymerase Chain Reaction ; TATA Box

INTRODUCTIONTo explore the relationship between ethnic origin and mode of feeding with early neonatal jaundice, we examined maternal and neonatal risk factors for hyperbilirubinaemia in a multi-ethnic Asian cohort of healthy term newborns.

MATERIALS AND METHODSThis is an observational cohort study in a maternity ward serving a multi-ethnic cosmopolitan community. The relationship between hyperbilirubinaemia (bilirubin >or=150 mmol/L before 48 hours to 72 hours after birth), ethnic origin, weight loss after birth, need for phototherapy, and other factors were examined. Bivariate comparisons and binary logistic regression were used to investigate the relationship between hyperbilirubinaemia/phototherapy with maternal and neonatal risk factors.

RESULTSA consecutive group of 1034 neonates (56% Chinese, 24% Indian subcontinent, 9% Malay) with birth weights >or=2500 g was investigated. Overall factors that contributed significantly to hyperbilirubinaemia/phototherapy were gestational age, Chinese ethnic origin, weight loss of >or=7%, vaginal delivery, glucose-6-phosphate-dehydrogenase (G6PD) deficiency, breastfeeding and ABO incompatibility. Chinese neonates who were totally breastfed had a higher risk for jaundice [adjusted odds ratio (OR) = 1.64; 95% confidence intervals (CI), 1.11- 2.44; P <0.014], and phototherapy (adjusted OR = 2.75; 95% CI 1.77-4.27; P <0.001) compared to those supplemented with, or totally formula fed. In contrast, the risk of jaundice for non- Chinese infants did not differ according to the mode of feed. Although weight loss as a whole increased the risk for jaundice (adjusted OR = 1.43; 95%CI, 1.03-1.99; P = 0.031), jaundice in Chinese neonates was not due to ineffective breastfeeding because both Chinese and non-Chinese breastfed infants lost similar weights.

CONCLUSIONSChinese ethnic origin was an independent risk factor for hyperbilirubinaemia and phototherapy. Breastfeeding was not a risk factor for hyperbilirubinaemia/phototherapy in non-Chinese Asian infants.

Asian Continental Ancestry Group ; Breast Feeding ; Ethnic Groups ; Female ; Gestational Age ; Humans ; Hyperbilirubinemia, Neonatal ; etiology ; therapy ; Infant Formula ; Infant, Newborn ; Jaundice, Neonatal ; etiology ; Male ; Phototherapy ; Risk Factors

OBJECTIVETo investigate the causes and treatment of postoperative hyperbilirubinemia after orthotopic liver transplantation.

METHODSClinical data of 368 cases of orthotopic liver transplantation patients from the First Affiliated Hospital of Sun Yat-sen University between 2004 and 2005 were analyzed retrospectively.

RESULTSThree hundred and sixty-eight patients experienced 396 incidents of hyperbilirubinemia, including 183 incidents of preoperative hyperbilirubinemia (46.2%), 46 incidents of ischemia-reperfusion injury (11.6%), 36 incidents of acute rejection (9.1%), 78 incidents of biliary complications (19.7%), 24 incidents of blood vessel complications (6.1%), 23 incidents of recurrence of the primary disease (5.8%) and 6 incidents of tacrolimus (FK506) toxicity (1.5%). The comprehensive management targeted to the etiology and symptoms were applied to all patients with hyperbilirubinemia.

CONCLUSIONHyperbilirubinemia is a common clinical manifestation after liver transplantation with multiple and complicated causes. The key point for successful treatment is to identify the causes. To reach the aim of treatment and obtain long-term survival of the recipients, it is very important to make a correct diagnosis and give reasonable therapeutic regimens as soon as possible.

Adolescent ; Adult ; Aged ; Child ; Female ; Humans ; Hyperbilirubinemia ; etiology ; therapy ; Liver Transplantation ; adverse effects ; Male ; Middle Aged ; Postoperative Complications ; therapy ; Retrospective Studies ; Young Adult

OBJECTIVETo study the therapeutic effect of glucocorticoid on early postoperative cholangiole cholestasis hyperbilirubinemia after liver transplantation.

METHODSThirteen liver transplantation recipients with serum total bilirubin above 171 micromol/L at two weeks to one month postoperatively were enrolled in this study. After exclusion of liver blood supply anomalies, bile duct complications, and acute rejection and establishment of a pathological diagnosis of cholangiole cholestasis by hepatic biopsy, hydrocortisone sodium succinate was infused. The liver functions of the patients were tested at 1 day before and 1 day and 1 week after the treatment. Hepatic biopsy was performed before and 1 week after the treatment to observe histopathological changes.

RESULTSThe serum levels of total bilirubin decreased significantly after the treatment with glucocorticoid. Pathology of the hepatic biopsy demonstrated the resolution of cholangiole cholestasis 1 week after the treatment.

CONCLUSIONGlucocorticoid treatment is effective for early postoperative cholangiole cholestasis hyperbilirubinemia after liver transplantation.

Adult ; Aged ; Cholestasis, Intrahepatic ; complications ; Female ; Humans ; Hydrocortisone ; analogs & derivatives ; therapeutic use ; Hyperbilirubinemia ; drug therapy ; etiology ; Liver Transplantation ; Male ; Middle Aged ; Postoperative Complications ; drug therapy

OBJECTIVETo probe the changes of fast component of brainstem auditory evoked potentials (FC-BAEP), slow component of brainstem auditory evoked potentials (SC-BAEP) and the mitochondrial ultrastructures of the neurons in the brainstem in the rat pups with hyperbilirubinemia.

METHODS7 days old SD rat pups were randomly divided into control group (C, 17 rat pups) and two test groups (T1, 17 rat pups and T2, 17 rat pups). Bilirubin solutions (2 g/L) were injected into the abdominal cavity of the rat pups in the group T1 and T2 at the postnatal day 7 and 10. Six hours after the second injection, seven rat pups of each group were randomly selected to test serum bilirubin concentration via a micro-gauge. FC-BAEP and SC-BAEP were examined with an evoked potential recorder in the rest rat pups of each group at postnatal day 17 and 20. At the postnatal day 20, the endocardial perfusion was performed in these rat pups for the fixation of the brain, and then the brains were taken out. The cochlear nuclei were used for observation via electron microscope.

RESULTSSix hours after the injection of bilirubin solution at the postnatal day 10, the serum bilirubin concentrations of the rat pups in group T1 and T2 were increased significantly. Except for II-IV inter-peak latency(IPL), all the peak latency(PL) and IPL of FC-BAEP evoked via three sound stimulating rates (10/s, 40/s,80/s) at the postnatal day 17 prolonged significantly in the rat pups of group T1 and T2, and the PL in group T2 were much longer than that in group T1. Except for II-IV IPL of FC-BAEP evoked via sound stimulating rates of 10/s and 40/s, all the PL and IPL at the postnatal day 20 prolonged significantly in the rat pups of group T1 and T2. The PL of SC-BAEP evoked via sound stimulating rate of 10/s at the postnatal day 17 and 20 in the rat pups of group T1 and T2 prolonged significantly, and the PL at the postnatal day 17 in group T2 were much longer than that of group T1. The changes of mitochondria of the neurons in the cochlear nuclei at the postnatal day 20 in the rat pups of group T1 and T2 were characterized by swell, the slurred membranes, the broken crista and so on.

CONCLUSIONThere were the abnormal changes of FC-BAEP, SC-BAEP and the mitochondrial ultrastructures of the neurons in the brainstem in the rat pups with hyperbilirubinemia. The PL and IPL of FC-BAEP and SC-BAEP could be taken as the objective and sensitive indexes for early monitoring the bilirubin-induced hearing loss and brain injury.

Animals ; Animals, Newborn ; Brain Stem ; pathology ; Evoked Potentials, Auditory, Brain Stem ; physiology ; Hearing Loss ; etiology ; physiopathology ; Hyperbilirubinemia ; complications ; physiopathology ; Male ; Mitochondria ; ultrastructure ; Neurons ; ultrastructure ; Rats ; Rats, Sprague-Dawley

Bilirubin ; blood ; Brain Diseases ; etiology ; prevention & control ; Electroencephalography ; Evoked Potentials, Auditory, Brain Stem ; Female ; Humans ; Hyperbilirubinemia, Neonatal ; complications ; physiopathology ; Infant, Newborn ; Male ; Serum Albumin ; analysis