BACKGROUND Both Gilbert's syndrome(GS)and hereditary spherocytosis(HS)are common genetic disorders.However,comorbidity of GS with HS has always been considered a rare phenomenon,and it can impede accurate diagnose...BACKGROUND Both Gilbert's syndrome(GS)and hereditary spherocytosis(HS)are common genetic disorders.However,comorbidity of GS with HS has always been considered a rare phenomenon,and it can impede accurate diagnoses in the presence of isolated unconjugated hyperbilirubinemia.CASE SUMMARY In a study on Levitt’s carbon monoxide(CO)breath test for the differential diagnosis of isolated hyperbilirubinemia,we found six GS patients with HS in 6 mo.The patients,including five males and one female,aged 25-58 years,were from four families and generally in good health.Their chronic fluctuating jaundice and/or hyperbilirubinemia had been diagnosed as simple constitutional jaundice for 6-30 years.Liver function tests showed isolated unconjugated hyperbilirubinemia with serum total bilirubin ranging from 20.7-75.4μmol/L.Blood hemoglobin was normal in five cases,and slightly decreased in one(11.5 g/dL).Overt hemolytic signs were absent,while erythrocyte lifespan determined by the newly developed Levitt’s CO breath test was significantly short(15-50 d),definitely demonstrating the presence of hemolysis.Given that their unconjugated hyperbilirubinemia compared inappropriately with hemolytic severity,as indicated by the hemoglobin level,further combined genetic tests for both UGT1A1 and hereditary erythrocyte deficiencies were conducted.These tests confirmed,at last,the coexistence of GS with HS.CONCLUSION Comorbidity of GS and HS might not be uncommon in isolated unconjugated hyperbilirubinemia.While CO breath test would sensitively detect the hemolysis,the discordance between the hyperbilirubinemia and hemoglobin level could strongly indicate the coexistence of GS and HS.展开更多
Objective:To reduce the potential risk in aplastic anemia patients complicated with Gilbert syndrome,and find an effective treatment for the unconjugated hyperbilirubinemia.Material and Methods:The mutation of UGT1A1 ...Objective:To reduce the potential risk in aplastic anemia patients complicated with Gilbert syndrome,and find an effective treatment for the unconjugated hyperbilirubinemia.Material and Methods:The mutation of UGT1A1 gene was identified first via sequencing in patients with Gilbert syndrome complicated by aplastic anemia.Before the treatment for aplastic anemia,bilirubin and phenobarbitone tests were conducted.Patients were then treated for their primary disease and given ursodeoxycholic acid(UDCA)either with or without phenobarbitone.Results:The clinical practice of UDCA,which can alleviate increased bilirubin levels,did not affect the key treatments for aplastic anemia.Conclusions:These results indicate that Gilbert syndrome should be addressed when treating aplastic anemia.Furthermore,abnormal bilirubin levels can be controlled effectively by the UDCA treatment.展开更多
Background Neonatal hyperbilirubinemia is observed in most newborns,and 5–15%of neonates require phototherapy.Phototherapy is efective but often prolongs hospitalization and has both short-term and potential long-ter...Background Neonatal hyperbilirubinemia is observed in most newborns,and 5–15%of neonates require phototherapy.Phototherapy is efective but often prolongs hospitalization and has both short-term and potential long-term harms.The aim of this systematic review and meta-analysis was to evaluate the role of ursodeoxycholic acid(UDCA)combined with phototherapy in neonatal hyperbilirubinemia.Methods A literature search was conducted on September 1,2021;590 studies were screened,and 17 full texts were assessed by two authors.We included randomized controlled trials with or without placebo intervention.Primary outcomes were changes in total bilirubin levels at 24 hours and phototherapy duration.We calculated mean diferences with 95%confdence intervals(CI).Results Six studies with 880 neonates were included.Of these studies,only two used a placebo-controlled double-blinded design.The overall risk of bias was high in one and moderate in four of the included studies.The mean decrease in the total bilirubin level during the frst 24 hours was 2.06 mg/dL(95%CI 0.82–3.30;six studies)greater in the UDCA treatment group.The phototherapy duration was 19.7 hours(95%CI 10.4–29.1;fve studies)shorter in the UDCA treatment group.Conclusions We found low-quality evidence that UDCA as an adjuvant to phototherapy seems to decrease total bilirubin faster and shorten phototherapy duration compared to standard treatment.Further studies are needed to confrm the efcacy,acute and long-term outcomes,and safety before implementing UDCA as an adjuvant to phototherapy in neonatal hyperbilirubinemia.展开更多
文摘BACKGROUND Both Gilbert's syndrome(GS)and hereditary spherocytosis(HS)are common genetic disorders.However,comorbidity of GS with HS has always been considered a rare phenomenon,and it can impede accurate diagnoses in the presence of isolated unconjugated hyperbilirubinemia.CASE SUMMARY In a study on Levitt’s carbon monoxide(CO)breath test for the differential diagnosis of isolated hyperbilirubinemia,we found six GS patients with HS in 6 mo.The patients,including five males and one female,aged 25-58 years,were from four families and generally in good health.Their chronic fluctuating jaundice and/or hyperbilirubinemia had been diagnosed as simple constitutional jaundice for 6-30 years.Liver function tests showed isolated unconjugated hyperbilirubinemia with serum total bilirubin ranging from 20.7-75.4μmol/L.Blood hemoglobin was normal in five cases,and slightly decreased in one(11.5 g/dL).Overt hemolytic signs were absent,while erythrocyte lifespan determined by the newly developed Levitt’s CO breath test was significantly short(15-50 d),definitely demonstrating the presence of hemolysis.Given that their unconjugated hyperbilirubinemia compared inappropriately with hemolytic severity,as indicated by the hemoglobin level,further combined genetic tests for both UGT1A1 and hereditary erythrocyte deficiencies were conducted.These tests confirmed,at last,the coexistence of GS with HS.CONCLUSION Comorbidity of GS and HS might not be uncommon in isolated unconjugated hyperbilirubinemia.While CO breath test would sensitively detect the hemolysis,the discordance between the hyperbilirubinemia and hemoglobin level could strongly indicate the coexistence of GS and HS.
基金This study was supported by the National Natural Science Foundation of China(No.81202839)the National Natural Science Foundation of China(No.81774080)+1 种基金the“Taishan Scholar”Project Special Fund(tsqn201812145)the Study Abroad Funding by the People’s Government of Shandong Province and the Affiliated Hospital of Shandong University of Traditional Chinese Medicine.
文摘Objective:To reduce the potential risk in aplastic anemia patients complicated with Gilbert syndrome,and find an effective treatment for the unconjugated hyperbilirubinemia.Material and Methods:The mutation of UGT1A1 gene was identified first via sequencing in patients with Gilbert syndrome complicated by aplastic anemia.Before the treatment for aplastic anemia,bilirubin and phenobarbitone tests were conducted.Patients were then treated for their primary disease and given ursodeoxycholic acid(UDCA)either with or without phenobarbitone.Results:The clinical practice of UDCA,which can alleviate increased bilirubin levels,did not affect the key treatments for aplastic anemia.Conclusions:These results indicate that Gilbert syndrome should be addressed when treating aplastic anemia.Furthermore,abnormal bilirubin levels can be controlled effectively by the UDCA treatment.
基金Open access funding provided by University of Eastern Finland(UEF)including Kuopio University Hospital.
文摘Background Neonatal hyperbilirubinemia is observed in most newborns,and 5–15%of neonates require phototherapy.Phototherapy is efective but often prolongs hospitalization and has both short-term and potential long-term harms.The aim of this systematic review and meta-analysis was to evaluate the role of ursodeoxycholic acid(UDCA)combined with phototherapy in neonatal hyperbilirubinemia.Methods A literature search was conducted on September 1,2021;590 studies were screened,and 17 full texts were assessed by two authors.We included randomized controlled trials with or without placebo intervention.Primary outcomes were changes in total bilirubin levels at 24 hours and phototherapy duration.We calculated mean diferences with 95%confdence intervals(CI).Results Six studies with 880 neonates were included.Of these studies,only two used a placebo-controlled double-blinded design.The overall risk of bias was high in one and moderate in four of the included studies.The mean decrease in the total bilirubin level during the frst 24 hours was 2.06 mg/dL(95%CI 0.82–3.30;six studies)greater in the UDCA treatment group.The phototherapy duration was 19.7 hours(95%CI 10.4–29.1;fve studies)shorter in the UDCA treatment group.Conclusions We found low-quality evidence that UDCA as an adjuvant to phototherapy seems to decrease total bilirubin faster and shorten phototherapy duration compared to standard treatment.Further studies are needed to confrm the efcacy,acute and long-term outcomes,and safety before implementing UDCA as an adjuvant to phototherapy in neonatal hyperbilirubinemia.