Inherited metabolic liver diseases arise from genetic mutations that lead to dis-ruptions in liver metabolic pathways and are predominantly observed in pedia-tric populations.The spectrum of genetic metabolic liver di...Inherited metabolic liver diseases arise from genetic mutations that lead to dis-ruptions in liver metabolic pathways and are predominantly observed in pedia-tric populations.The spectrum of genetic metabolic liver disorders is diverse,encompassing a range of conditions associated with aberrations in iron,copper,carbohydrate,lipid,protein,and amino acid metabolism.Historically,research in the domain of genetic metabolic liver diseases has predominantly concentrated on hepatic parenchymal cell alterations.Nevertheless,emerging studies suggest that inherited metabolic liver diseases exert significant influences on the immune microenvironment,both within the liver and systemically.This review endeavors to encapsulate the immunological features of genetic metabolic liver diseases,aiming to expand the horizons of researchers in this discipline,and to elucidate the underlying pathophysiological mechanisms pertinent to hereditary metabolic liver diseases and to propose innovative therapeutic approaches.展开更多
Background:Medical literature on the prevalence of genetic liver disease is lacking.In this study,we investigated the inhospital healthcare and economic burden from genetic causes of non-alcoholic chronic liver diseas...Background:Medical literature on the prevalence of genetic liver disease is lacking.In this study,we investigated the inhospital healthcare and economic burden from genetic causes of non-alcoholic chronic liver disease(NACLD)and nonalcoholic liver cirrhosis(NALC)in the USA.Methods:Data were abstracted from the National Inpatient Sample database between 2002 and 2014 using ICD9 codes for patients discharged with NACLD and NALC secondary to genetic diseases including alpha-1 antitrypsin deficiency(A1ATd),cystic fibrosis(CF),Wilson disease(WD),hereditary hemochromatosis(HHC),glycogen storage disease,and disorders of aromatic amino-acid metabolism(DAAAM).Results:Throughout the study period,there were 19,332 discharges for NACLD associated with the six genetic diseases including 14,368 for NALC.There were$1.09 billion in hospital charges,790 in-hospital deaths,and 955 liver transplants performed.Overall,A1ATd was associated with 8,983(62.52%)hospitalizations for NALC followed by WD,CF,and HHC.The highest in-hospital mortality was seen with HHC.The greatest frequency of liver transplants was seen with DAAAM.Conclusion:The number of hospitalizations for genetic liver diseases continues to increase.With increased funding and directed research efforts,we can aim to improvemedical treatments and the quality of life for patients at risk for liver deterioration.展开更多
基金Supported by Shanghai Science and Technology Development Foundation(Outstanding Academic Leader),No.23XD1423100National Natural Science Foundation,No.82241221 and No.92059205。
文摘Inherited metabolic liver diseases arise from genetic mutations that lead to dis-ruptions in liver metabolic pathways and are predominantly observed in pedia-tric populations.The spectrum of genetic metabolic liver disorders is diverse,encompassing a range of conditions associated with aberrations in iron,copper,carbohydrate,lipid,protein,and amino acid metabolism.Historically,research in the domain of genetic metabolic liver diseases has predominantly concentrated on hepatic parenchymal cell alterations.Nevertheless,emerging studies suggest that inherited metabolic liver diseases exert significant influences on the immune microenvironment,both within the liver and systemically.This review endeavors to encapsulate the immunological features of genetic metabolic liver diseases,aiming to expand the horizons of researchers in this discipline,and to elucidate the underlying pathophysiological mechanisms pertinent to hereditary metabolic liver diseases and to propose innovative therapeutic approaches.
文摘Background:Medical literature on the prevalence of genetic liver disease is lacking.In this study,we investigated the inhospital healthcare and economic burden from genetic causes of non-alcoholic chronic liver disease(NACLD)and nonalcoholic liver cirrhosis(NALC)in the USA.Methods:Data were abstracted from the National Inpatient Sample database between 2002 and 2014 using ICD9 codes for patients discharged with NACLD and NALC secondary to genetic diseases including alpha-1 antitrypsin deficiency(A1ATd),cystic fibrosis(CF),Wilson disease(WD),hereditary hemochromatosis(HHC),glycogen storage disease,and disorders of aromatic amino-acid metabolism(DAAAM).Results:Throughout the study period,there were 19,332 discharges for NACLD associated with the six genetic diseases including 14,368 for NALC.There were$1.09 billion in hospital charges,790 in-hospital deaths,and 955 liver transplants performed.Overall,A1ATd was associated with 8,983(62.52%)hospitalizations for NALC followed by WD,CF,and HHC.The highest in-hospital mortality was seen with HHC.The greatest frequency of liver transplants was seen with DAAAM.Conclusion:The number of hospitalizations for genetic liver diseases continues to increase.With increased funding and directed research efforts,we can aim to improvemedical treatments and the quality of life for patients at risk for liver deterioration.
