1.Molecular genetic basis of Gilbert's syndrome.
Chinese Journal of Hepatology 2002;10(5):395-397
3.Clinical and pathological features of 16 patients with Gilbert syndrome and 2 cases with genetic analysis.
Xiang-xin PENG ; Tai-ling WANG
Chinese Journal of Hepatology 2008;16(5):372-374
OBJECTIVETo summarize the clinical and pathological features of Gilbert syndrome.
METHODSThe clinical features and liver histological findings of 16 cases of Gilbert syndrome were reviewed.
RESULTSOf 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).
CONCLUSIONSThe 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.
Adolescent ; Adult ; Female ; Gilbert Disease ; genetics ; pathology ; Humans ; Liver ; pathology ; Male ; Young Adult
4.Repeated yellowing of the skin and sclera for 2 years.
Xiao-Ye YUAN ; Xiang-Ling HE ; Hui ZOU ; Run-Ying ZOU
Chinese Journal of Contemporary Pediatrics 2017;19(1):77-80
A two-year-old girl was admitted due to repeated yellowing of the skin and sclera for 2 years and had no other specific symptoms or signs. The use of phenobarbital could relieve the symptoms of jaundice. Multiple examinations showed increased indirect bilirubin levels, and the results of aminotransferases and liver imaging were normal. There was no evidence of hemolysis. The analysis of UGT1A1 gene in her family found that this child had double homozygous mutation of c.211G>A(G71R) and c.1456T>G(Y486D), which had been reported as the pathogenic mutation for Gilbert syndrome. Her parents carried double heterozygous mutation of G71R and Y486D and had no symptom of jaundice. The child was diagnosed as having Gilbert syndrome. It is concluded that as for patients with unconjugated hyperbilirubinemia which cannot be explained by liver damage and hemolysis, their family history should be investigated in detail and gene analysis should be performed as early as possible, in order to identify congenital bilirubin metabolic disorders.
Child, Preschool
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Female
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Gilbert Disease
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diagnosis
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Glucuronosyltransferase
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genetics
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Humans
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Mutation
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Sclera
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pathology
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Skin
;
pathology
5.A Case of Congenital Hemolytic Anemia of Unknown Cause Combined with Gilbert's Syndrome.
Ji Whan LIM ; Joon Hyouk CHOI ; Yang Hoon NAM ; In Seok SEO ; Seong Min YOON ; Myoung Sook KOO
Korean Journal of Hematology 2008;43(1):58-61
Congenital hemolytic anemia is mainly developed due to intrinsic defects of erythrocytes, but in some cases the cause of hemolytic anemia is unclear. Gilbert's syndrome shows mild, chronic unconjugated hyperbilirubinemia that is due to reduced UDP glucuronosyltransferase (UGT-1A1) activity and this develops because of UGT-1A1 gene mutation. We report here on a case of severe hyperbilirubinemia in a 17-year-old male who was diagnosed with congenital hemolytic anemia of an unknown cause combined with Gilbert's syndrome.
Adolescent
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Anemia, Hemolytic
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Anemia, Hemolytic, Congenital
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Erythrocytes
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Gilbert Disease
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Glucuronosyltransferase
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Humans
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Hyperbilirubinemia
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Male
6.A case of Gilbert syndrome caused by gene compound heterozygous mutations.
Weijie OU ; Su LIN ; Yilong WU ; Yueyong ZHU
Journal of Zhejiang University. Medical sciences 2020;49(3):406-409
A case of Gilbert syndrome (GS) with a heterozygous mutation in the gene is reported. The patient had no symptoms except for recurrent sclera icterus since childhood. Laboratory examinations revealed an elevated unconjugated bilirubin. Biliary obstruction, hemolysis and other diseases that might cause jaundice were excluded. *28 and c.211G>A heterozygous mutations in gene were found, which may be another type of mutation causing GS in Chinese population.
Asian Continental Ancestry Group
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Bilirubin
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Gilbert Disease
;
genetics
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Glucuronosyltransferase
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genetics
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Heterozygote
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Humans
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Mutation
7.Coexistence of Gilbert Syndrome and Hereditary Spherocytosis in a Child Presenting with Extreme Jaundice.
Pediatric Gastroenterology, Hepatology & Nutrition 2014;17(4):266-269
Gilbert syndrome is the most common inherited disorder of bilirubin glucuronidation. It is characterized by intermittent episodes of jaundice in the absence of hepatocellular disease or hemolysis. Hereditary spherocytosis is the most common inherited hemolytic anemia and is characterized by spherical, osmotically fragile erythrocytes that are selectively trapped by the spleen. The patients have variable degrees of anemia, jaundice, and splenomegaly. Hereditary spherocytosis usually leads to mild-to-moderate elevation of serum bilirubin levels. Severe hyperbilirubinemia compared with the degree of hemolysis should be lead to suspicion of additional clinical conditions such as Gilbert syndrome or thalassemia. We present the case of a 12-year-old boy with extreme jaundice and nausea. The diagnosis of hereditary spherocytosis was confirmed by osmotic fragility test results and that of Gilbert syndrome by genetic analysis findings.
Anemia
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Anemia, Hemolytic
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Bilirubin
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Child*
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Diagnosis
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Erythrocytes
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Gilbert Disease*
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Hemolysis
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Humans
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Hyperbilirubinemia
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Jaundice*
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Male
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Nausea
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Osmotic Fragility
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Spleen
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Splenomegaly
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Thalassemia
8.Isolated Unconjugated Hyperbilirubinemia after Liver Transplantation.
Young Rok CHOI ; Kyung Suk SUH ; Woo Young SHIN ; Hae Won LEE ; Eung Ho CHO ; Nam Joon YI ; Kuhn Uk LEE
Korean Journal of Hepato-Biliary-Pancreatic Surgery 2007;11(1):42-47
PURPOSE: In our experience, post-LT persistent isolated unconjugated hyperbilirubinemia (IUH) has been frequently observed even after liver transplantation (LT) from normal donors. The present study was performed to evaluate the incidence and clinical significance of post-LT IUH. METHODS: Eighty-five patients were enrolled, and they had undergone adult-to-adult living donor LT between Jan 1999 and Jun 2003 and they had been followed-up for more than 2 years. Persistent post-LT IUH was defined as the case that showed repeated IUH 3 times or more per year. We excluded those cases that had other liver function abnormality, biliary complication, active infection or hemolysis. The donor's condition and the long-term prognosis of the post-LT IUH patients were investigated. RESULTS: Sixteen patients (18.8%) showed post-LT IUH. Seven of them underwent LT from donors who had IUH preoperatively. Nine (10.6%) of them, however, underwent LT from normal donors, that is, there was newly developed IUH postoperatively. There was no clinical factor associated with post-LT IUH for those nine patients, yet they developed no graft failure and major complications. A gradual increasing tendency of the bilirubin level during follow-up duration was observed for 3 of these 9 patients. CONCLUSION: Although about 10% patients developed post-LT IUH from normal donors, they all showed a good prognosis. Therefore, post-LT IUH was likely to be benign. However, close observation may be required because a gradual increasing tendency of bilirubin level was observed in some patients.
Bilirubin
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Follow-Up Studies
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Gilbert Disease
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Hemolysis
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Humans
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Hyperbilirubinemia*
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Incidence
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Liver Transplantation*
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Liver*
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Living Donors
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Prognosis
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Tissue Donors
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Transplants
9.A Study of Polymorphism in UDP-glucuronosyltransferase 1 (UGT-1A1) Promoter Gene in Korean Patients with Gilbert's Syndrome.
Yoon Hong KIM ; Jong Eun YEON ; Gil Man JUNG ; Hyo Jung KIM ; Jae Seon KIM ; Kwan Soo BYUN ; Young Tae BAK ; Chang Hong LEE
The Korean Journal of Hepatology 2002;8(2):132-138
BACKGROUNDS/AIMS: Hepatic glucuronidating activity, essential for efficient biliary excretion of bilirubin, is reduced to about 30 percent of normal in patients with Gilbert's syndrome. Patients with Gilbert's syndrome have an additional TA insertion in the A(TA)TAA of UDP-glucuronosyltransferase 1 (UGT-1A1) promoter gene. This results in reduced frequency and accuracy of transcription initiation and enzyme activity. The frequency and location of the mutation vary according to races. This study was done to determine the UGT-1A1 promoter gene mutation in Korean cases of Gilbert's syndrome. METHODS: Promoter regions of the gene for bilirubin UGT-1A1 in twelve patients with Gilbert's syndrome and twenty healthy subjects (controls) were sequenced. RESULTS: 1) Among twelve Gilbert's syndrome five patients were homozygous for A(TA)6/6TAA, two were homozygous for A(TA)7/7TAA, and the other five were heterozygous for A(TA)6/7TAA. The prevalence of A(TA)TAA mutation was 58.3 percent. 2) Among twenty healthy subjects seventeen were homozygous for A(TA)6/6TAA, one was homozygous for A(TA)7/7TAA, and two were heterozygous for A(TA)6/7TAA. The prevalence of A(TA)TAA mutation was 15 percent. 3) The prevalence of A(TA)TAA mutation in Gilbert's syndrome patients was significantly higher than in the controls (p=0.018). CONCLUSION: Although the prevalence of A(TA)TAA mutation in Korean patients with Gilbert's syndrome is significantly higher than in the controls, the mutations of the promoter region of UGT-1A1 gene appear not to be the main or sole cause in Gilbert's syndrome in Korea since the prevalence of A(TA)TAA mutation is not so high. Further studies to determine the relationship between other UGT-1A1 gene mutation and Gilbert's syndrome in Korea are needed.
Adult
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English Abstract
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Female
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Gilbert Disease/enzymology/*genetics
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Glucuronosyltransferase/*genetics
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Human
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Korea
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Male
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*Mutation
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*Polymorphism (Genetics)
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Promoter Regions (Genetics)/*genetics
10.Ultrastructure of hepatocytes in Gilbert's syndrome patients and chronic hepatitis B patients.
Chinese Journal of Hepatology 2013;21(12):929-933
OBJECTIVETo explore the pathological characteristics of inborn hyperbilirubinemia of patients with Gilbert's syndrome (GS).
METHODSPatients with GS (n = 7) and patients with chronic hepatitis B (CHB; n = 8) were enrolled in the study. GS was diagnosed by peripheral blood analysis results showing glucuronyl transferase gene mutation. The histology and ultrastructure of biopsied liver tissues were evaluated by light microscopy and transmission electron microscopy.
RESULTSThe GS group showed normal structure in the hepatic portal area and lobule; however, bile pigment granules with high electron density were noted in the hepatocytes. The CHB group showed abnormal structure of the hepatic lobules, including infiltration of inflammatory cells, necrotic regions, degenerated hepatocytes, bile duct injury, and fibrosis in the portal tracts; a few bile pigment granules were observed. The GS group also showed greater quantity and size of bilirubin deposits than the CHB group.
CONCLUSIONThe histological and ultrastructural features of GS include normal hepatic lobule and deposition of bile pigment granules in hepatocytes.
Adolescent ; Adult ; Child ; Female ; Gilbert Disease ; pathology ; Hepatitis B, Chronic ; pathology ; Hepatocytes ; ultrastructure ; Humans ; Liver ; cytology ; pathology ; Male ; Young Adult