ABSTRACT
OBJECTIVE: To perform clinical and genetic pedigree analyses of a Chinese male patient with Gilbert's syndrome and his relatives. METHODS: Blood sample were collected from the proband and his relatives by liver function test, etiological examination and genetic analysis to exclude other related diseases. The phenobarbital-responsive enhancer module (PBREM), TATA box and common mutation sites in exons of UGT1A1 gene were amplified by polymerase chain reaction (PCR) and the products screened by direct DNA sequencing. RESULTS: c. -3279T > G in PBREM, TA insertion in TATA box and Gly71Arg were observed in this family. A linkage disequilibrium is also noted between c. -3279T > G and TA insertion. In four affected members, three are heterozygotes and one is homozygote. The correlation between genotype and phenotype with a high serum level of unconjugated bilirubin was confirmed. CONCLUSION: c. -3279T > G in PBREM, TA insertion in TATA box and Gly71Arg are essential for the pathogenesis of Gilbert's syndrome in this Chinese family. Gilbert's syndrome in this family is inherited in an autosomal recessive manner.
Subject(s)
Gilbert Disease/genetics , Glucuronosyltransferase/genetics , Mutation , Adult , Asian People/genetics , Exons , Female , Genotype , Humans , Male , Middle Aged , PedigreeABSTRACT
OBJECTIVE: To summarize the clinical and pathological features of Gilbert syndrome. METHODS: The clinical features and liver histological findings of 16 cases of Gilbert syndrome were reviewed. RESULTS: Of the 16 cases (13 males and 3 females, with an age range from 14 to 40 years), all had recurrent jaundice, unconjugated hyperbilirubinemia and lipofuscin granules in the hepatocytes around the hepatic perivenular areas. The genetic analysis of the two patients showed that the site of genetic mutations were located at exon 1 (Gly71Arg). CONCLUSIONS: The diagnosis of Gilbert disease can be improved by combining the data of clinical features, the genetic analysis findings and the histological changes of the livers of the patients.
Subject(s)
Gilbert Disease/genetics , Gilbert Disease/pathology , Liver/pathology , Adolescent , Adult , Female , Humans , Male , Young AdultABSTRACT
OBJECTIVE: To study the histopathological changes of livers in idiopathic portal hypertension (IPH). METHODS: Liver specimens from 29 cases with idiopathic portal hypertension were studied. Histological preparations of the livers were stained with haematoxylin eosin and Masson's trichrome; reticular fibers in the liver tissues were demonstrated. The slides were also stained using some immunohistochemistry methods, and the pathological changes of the livers were analyzed. RESULTS: The characteristic changes found in these IPH livers were dense portal fibrosis; obliteration, with or without phlebitis, of the branches of the portal vein; dilatation of the sinusoids; atrophy and nodular hyperplasia of liver cells. CONCLUSIONS: Histopathological changes of the livers in IPH are dense portal fibrosis, portal vein branch obliteration and nodular hyperplasia of liver cells. These are the main features for a histopathological diagnosis of IPH.
