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
Gilbert syndrome （GS, MIM #143500） is characterized by fluctuating mild, unconjugated hyperbilirubinemia 〈85 μmol/L and is caused by mutations in the bilirubin uridine diphosphate （UDP）-glucuronosyltransferase g...Gilbert syndrome （GS, MIM #143500） is characterized by fluctuating mild, unconjugated hyperbilirubinemia 〈85 μmol/L and is caused by mutations in the bilirubin uridine diphosphate （UDP）-glucuronosyltransferase gene （ UGT1A 1 ）,Dubin-Johnson syndrome （DJS, M I M #237500） is characterized by fluctuating mild, predominantly conjugated hyperbilirubinemia and is caused by mutations in the ATP-binding cassette subfamily C member 2 gene （ABCC2）.展开更多
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
Intermittent fasting(IF)is an intervention that involves not only dietary modific-ations but also behavioral changes with the main core being a period of fasting alternating with a period of controlled feeding.The dur...Intermittent fasting(IF)is an intervention that involves not only dietary modific-ations but also behavioral changes with the main core being a period of fasting alternating with a period of controlled feeding.The duration of fasting differs from one regimen to another.Ramadan fasting(RF)is a religious fasting for Muslims,it lasts for only one month every one lunar year.In this model of fasting,observers abstain from food and water for a period that extends from dawn to sunset.The period of daily fasting is variable(12-18 hours)as Ramadan rotates in all seasons of the year.Consequently,longer duration of daily fasting is observed during the summer.In fact,RF is a peculiar type of IF.It is a dry IF as no water is allowed during the fasting hours,also there are no calorie restrictions during feeding hours,and the mealtime is exclusively nighttime.These three variables of the RF model are believed to have a variable impact on different liver diseases.RF was evaluated by different observational and interventional studies among patients with non-alcoholic fatty liver disease and it was associated with improve-ments in anthropometric measures,metabolic profile,and liver biochemistry regardless of the calorie restriction among lean and obese patients.The situation is rather different for patients with liver cirrhosis.RF was associated with adverse events among patients with liver cirrhosis irrespective of the underlying etiology of cirrhosis.Cirrhotic patients developed new ascites,ascites were increased,had higher serum bilirubin levels after Ramadan,and frequently developed hepatic encephalopathy and acute upper gastrointestinal bleeding.These complications were higher among patients with Child class B and C cirrhosis,and some fatalities occurred due to fasting.Liver transplant recipients as a special group of patients,are vulnerable to dehydration,fluctuation in blood immunosuppressive levels,likelihood of deterioration and hence observing RF without special precautions could represent a real danger for them.Patients with Gilbert syndrome can safely observe RF despite the minor elevations in serum bilirubin reported during the early days of fasting.展开更多
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.
文摘Gilbert syndrome （GS, MIM #143500） is characterized by fluctuating mild, unconjugated hyperbilirubinemia 〈85 μmol/L and is caused by mutations in the bilirubin uridine diphosphate （UDP）-glucuronosyltransferase gene （ UGT1A 1 ）,Dubin-Johnson syndrome （DJS, M I M #237500） is characterized by fluctuating mild, predominantly conjugated hyperbilirubinemia and is caused by mutations in the ATP-binding cassette subfamily C member 2 gene （ABCC2）.
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.
文摘Intermittent fasting(IF)is an intervention that involves not only dietary modific-ations but also behavioral changes with the main core being a period of fasting alternating with a period of controlled feeding.The duration of fasting differs from one regimen to another.Ramadan fasting(RF)is a religious fasting for Muslims,it lasts for only one month every one lunar year.In this model of fasting,observers abstain from food and water for a period that extends from dawn to sunset.The period of daily fasting is variable(12-18 hours)as Ramadan rotates in all seasons of the year.Consequently,longer duration of daily fasting is observed during the summer.In fact,RF is a peculiar type of IF.It is a dry IF as no water is allowed during the fasting hours,also there are no calorie restrictions during feeding hours,and the mealtime is exclusively nighttime.These three variables of the RF model are believed to have a variable impact on different liver diseases.RF was evaluated by different observational and interventional studies among patients with non-alcoholic fatty liver disease and it was associated with improve-ments in anthropometric measures,metabolic profile,and liver biochemistry regardless of the calorie restriction among lean and obese patients.The situation is rather different for patients with liver cirrhosis.RF was associated with adverse events among patients with liver cirrhosis irrespective of the underlying etiology of cirrhosis.Cirrhotic patients developed new ascites,ascites were increased,had higher serum bilirubin levels after Ramadan,and frequently developed hepatic encephalopathy and acute upper gastrointestinal bleeding.These complications were higher among patients with Child class B and C cirrhosis,and some fatalities occurred due to fasting.Liver transplant recipients as a special group of patients,are vulnerable to dehydration,fluctuation in blood immunosuppressive levels,likelihood of deterioration and hence observing RF without special precautions could represent a real danger for them.Patients with Gilbert syndrome can safely observe RF despite the minor elevations in serum bilirubin reported during the early days of fasting.
