RESUMEN
This study was carried out to analyze uridine diphosphate (UDP)-glucuronosyltransferase 1A1 (UGT1A1) gene mutations in neonates with unconjugated hyperbilirubinemia, from two different ethnic groups. Polymerase chain reaction and gene sequencing were used to analyze the differences in genotypes and allele frequencies of different gene mutations among the ethnic groups; this was followed by checking their correlation with the serum bilirubin level and the occurrence of unconjugated hyperbilirubinemia in neonates. Our results reveal that the UGT1A1 mutant genotype, 211G>A, is distributed differently in the case vs control groups, as well as in the Zhuang vs Han ethnic groups. Moreover, this difference is statistically significant (P < 0.05); the total serum bilirubin (TSB) and unconjugated bilirubin (UCB) levels in patients carrying the single homozygous mutation, 211G>A, were markedly higher than that in patients without the mutation (P < 0.05). Furthermore, the TSB and UCB levels were significantly different between patients carrying single or compound 211G>A heterozygous mutation, (TA)6/7, and 1941C>G/2042C>G heterozygous mutation, and patients without mutation (P > 0.05). Our findings suggest that the 211G>A mutation in the first exon may be a risk factor for unconjugated hyperbilirubinemia in Zhuang and Han neonates. The serum bilirubin levels seem to be affected by the homozygosity or heterozygosity of the UGT1A1 gene mutation; 211G>A homozygous mutation is an important factor that causes a rise in bilirubin in neonates with unconjugated hyperbilirubinemia.
Asunto(s)
Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Glucuronosiltransferasa/genética , Hiperbilirrubinemia Hereditaria/genética , Bilirrubina/sangre , Femenino , Frecuencia de los Genes , Genotipo , Heterocigoto , Homocigoto , Humanos , Hiperbilirrubinemia Hereditaria/sangre , Hiperbilirrubinemia Hereditaria/patología , Recién Nacido , Masculino , Mutación , Polimorfismo de Nucleótido SimpleRESUMEN
Rotor's syndrome is a rare entity in our Country. We report here a case of this anomaly in a seventeen years old girl with jaundice from birth, normal biliary channels, elevated urinary coproporphyrins and retarded excretion of bromosulphalein with normal histology of the liver. The familiar study showed that the mother, but not the brothers, had a similar defect in excretion of bromosulphalein.
Asunto(s)
Hiperbilirrubinemia Hereditaria/genética , Adolescente , Coproporfirinas/orina , Femenino , Humanos , Hiperbilirrubinemia Hereditaria/metabolismo , Hiperbilirrubinemia Hereditaria/patología , Hígado/patología , LinajeRESUMEN
Hepatic biopsy of five patients with Gilbert's syndrome was examined at the electron microscopy and only one disclosed incharacteristic alterations. The others were considered normal.
Asunto(s)
Bilirrubina/sangre , Enfermedad de Gilbert/patología , Hiperbilirrubinemia Hereditaria/patología , Hígado/ultraestructura , Adolescente , Adulto , Biopsia , Femenino , Humanos , Hígado/fisiopatología , Masculino , Mitocondrias Hepáticas/ultraestructuraRESUMEN
Se estudian tres casos pediátricos de pacientes portadores de los síndromes de Dubin- Johnson y Rotor, diagnosticados por medio de la laparoscopia y biopsia hepática, teniendo en cuenta algunos elementos clínicos (ictericia familiar crónica), humorales (bilirrubina conjugada aumentada en sangre, curva de BSP patológica después de los 45 minutos) y radiológicos, los cuales representaron una valiosa orientación. Se trató de esclarecer la eterna polémica sobre la naturaleza del pigmento Dubin-Johnson, para lo que se efectuó un estudio histoquímico en el caso del paciente pediátrico que se analizó, y que ofrece como resultado que dicho pigmento pertenece a ambos grupos (melanina y lipofucsina), por lo cual se considera dicho pigmento como una lipomelanina(AU)