Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019158 (hepatitis)
 30,205 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Five patients with alpha-1-antitrypsin deficiency (PiZ) are reported. All these patients presented with the neonatal hepatitis syndrome and two fo them had developed cirrhosis at ages 5 and 8 years, respectively. Three patients, ages 1, 9 and 21 years, are asymptomatic. The oldest patient, 21 years of age, has only mild histologic changes in the liver. The prognosis for patients with alpha-1 antitrypsin deficiency (PiZ) presenting with neonatal hepatitis is not necessarily grave, a finding that differs from previous observations.
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PMID:Neonatal hepatitis and alpha-1-antitrypsin deficiency. The prognosis in five patients. 30 Apr 52

We present our experience with 5 pediatric patients, 3 males and 2 females, with alpha 1 antitrypsin deficiency. These patients were between the ages of 15 months and 8 years and 4 were of the PI ZZ phenotype and 1 of the PI SZ phenotype. All cases presented with liver disease (neonatal cholestasis, cirrhosis, hepatitis). We comment on the different clinical forms of this entity during childhood, most of which are liver diseases, whereas in the adult it is generally manifest as lung disease.
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PMID:[Alpha-1 antitrypsin deficiency in infancy and childhood]. 158 Apr 32

A total of 123 patients with neonatal liver disease without extrahepatic bile duct obstruction or arteriohepatic dysplasia have been studied for six to 18 years. Idiopathic neonatal hepatitis, present in 73 babies, carried a high mortality due to liver failure (18%), septicaemia (6%), and associated defects (14%), especially in the first year of life (25%). Progression to chronic liver disease in non-familial idiopathic cases occurred in three of 40 reviewed patients. Only 12 of these children were completely healthy, the remainder having other permanent disabilities (57%). Four of nine familial cases of idiopathic neonatal hepatitis died in the first 12 months of life as did two of the four reviewed survivors. Progression to chronic liver disease or to death was a continuous process without any interval of recovery in all but one of these patients. Among patients with a presumed infective cause, cytomegalovirus infection caused a particularly benign form of neonatal hepatitis but was a frequent cause of brain damage or other disabilities. Babies who survived other infective liver diseases showed complete healing of the liver damage. Neonatal liver disease associated with alpha 1 antitrypsin deficiency progressed to death or chronic liver disease in three of nine patients and was not associated with a paucity of interlobular bile ducts.
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PMID:Long term prognosis for babies with neonatal liver disease. 299 Mar 56

Homozygous deficiency of alpha-1 antitrypsin is the most common inborn error or metabolism in Europe. Severe deficiency of this major protease inhibitor in serum is associated with chronic obstructive lung disease, chronic liver disease in adults and neonatal hepatitis. An overview is given of the role of heredity, and the diagnostic criteria and clinical and histological findings in this disorder. Emphysema seems to be caused by the free elastolytic activity of white cells, leading to the degradation of elastin. The pathophysiology of liver disease - less well understood - is discussed with special emphasis on the importance of heterozygous alpha-1 antitrypsin deficiency. Exogenous noxae seem to play an important role in the pathogenesis of heterozygous deficiency. In view of the 7% frequency of heterozygous alpha-1 antitrypsin deficiency in the European population and the role of noxae in the development of pulmonary and liver diseases, improved prophylaxis is mandatory.
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PMID:[Alpha 1-antitrypsin deficiency: a review with special reference to the significance of heterozygous deficiency]. 300 60

We have investigated the possible role of cell-mediated immunity in the pathogenesis of liver disease associated with alpha 1-antitrypsin (AAT) deficiency in 16 children with PiZZ phenotype, who presented with liver disease in infancy. Peripheral blood lymphocytes from 13 patients were incubated with autologous hepatocytes in a microcytotoxicity assay. There was a clear trend for cytotoxicity to increase with age and thus significantly increased cytotoxicity was found in four cases older than 2 years, while intermediate values were recorded in three children between 6 months and 2 years and normal values in children younger than 6 months. Fractionation of PBL into T and non-T-enriched subsets showed that both were involved in the cytotoxic reaction. A purified liver membrane lipoprotein preparation (LSP) inhibited both T and non-T-cell cytotoxicity suggesting that LSP is a major target antigen in this system. Sensitization to LSP was also present in 2 of the 3 children studied using a recently developed T-lymphocyte migration inhibitory factor (T-LIF) test. Control experiments performed in infants with neonatal hepatitis syndrome, but with normal Pi phenotype showed consistently increased cytotoxicity values. Cell-mediated immune reactions directed against autologous hepatocytes develop late in the course of the liver disease associated with AAT deficiency. While this reaction cannot be involved in the pathogenesis of the initial liver lesion, it may contribute to perpetuation of liver damage.
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PMID:[Direct immune response against hepatic antigens in patients with alpha-1-antitrypsin deficiency]. 348 51

To evaluate the role of serum procollagen III peptide as a non-invasive marker of liver damage and prognosis in hepatobiliary disorders of infancy, we have measured its concentration at presentation and serially in 30 infants with extrahepatic biliary atresia, 22 with idiopathic hepatitis of infancy, 10 with alpha 1 antitrypsin deficiency and 105 age-matched controls. Raised procollagen III peptide concentrations occurred in 51% of patients at presentation and 59% at follow up but were not related to the type of liver disease or the severity of liver damage, as assessed either by standard biochemical tests of liver function, serum glycocholic acid, semiquantitative assessment of 11 histopathological features or hepatic prolyl hydroxylase activity. Serum procollagen III peptide concentrations also gave no guide to prognosis. Although the factors determining serum procollagen III peptide concentrations in hepatobiliary disorders of infancy are unknown at the present time, we suggest that changes in growth rate may be of major importance in determining the significance of serum procollagen III peptide concentrations in infants and children.
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PMID:Serum type III procollagen peptide as a non-invasive marker of liver damage during infancy and childhood in extrahepatic biliary atresia, idiopathic hepatitis of infancy and alpha 1 antitrypsin deficiency. 349 13

Fifty four infants with hepatobiliary disease and conjugated hyperbilirubinaemia of more than two weeks' duration were identified in a defined area of south east England in a prospective study between January 1971 and December 1973. The overall incidence was one case per 2500 live births. The cases were regularly reviewed and all survivors except one were assessed at age 10 years. Nine of 11 with extrahepatic biliary atresia died from liver disease by 2 years of age, one died at 5 years, and the survivor has cirrhosis with portal hypertension. Four out of seven with alpha 1 antitrypsin deficiency died aged 1 to 3 years from liver disease and one of the survivors has cirrhosis. All three infants with intrauterine infection and one with chromosomal abnormality died in infancy. Three children with other associated factors, choledochal cyst, galactosaemia, and rhesus isoimmunisation, recovered completely with no persisting liver disease. Two of 29 with cryptogenic hepatitis died, but only a further two have signs of persisting liver disease. Perinatal complications were more common in this group. Four of the 27 children surviving to the age of 10 years are educationally subnormal. Prognosis for infants with intrahepatic liver disease in the absence of known associated factors is good and every effort should be made to minimise the short term effects of cholestasis.
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PMID:Hepatitis syndrome in infancy--an epidemiological survey with 10 year follow up. 387 4

To investigate the possible role of cell mediated cytotoxicity in the pathogenesis or perpetuation of liver damage associated with alpha 1-antitrypsin (AAT) deficiency, peripheral blood lymphocytes (PBL) from 13 children with PiZZ phenotype who had had liver disease in infancy were incubated with autologous hepatocytes in a microcytotoxicity assay. There was a clear trend for cytotoxicity to increase with age and thus significantly increased cytotoxicity was found in four cases older than 2 years, while intermediate values were recorded in three children between 6 months and 2 years and normal values in children younger than 6 months. Fractionation of PBL into T and non-T-enriched subsets showed that both were involved in the cytotoxic reaction. A purified liver membrane lipoprotein preparation (LSP) inhibited both T and non-T-cell cytotoxicity suggesting that LSP is a major target antigen in this system. Control experiments performed in infants with neonatal hepatitis syndrome, but with normal Pi phenotype, showed consistently increased cytotoxicity values. Cell-mediated immune reactions directed against autologous hepatocytes develop late in the course of the liver disease associated with AAT deficiency. While this reaction cannot be involved in the pathogenesis of the initial liver lesion, it may contribute to perpetuation of liver damage.
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PMID:Lymphocyte cytotoxicity to autologous hepatocytes in alpha 1-antitrypsin deficiency. 620 81

The aim of this study was to assess the causes of histologically proven chronic hepatitis in a series of 357 consecutively admitted patients. Patients with chronic alcohol intake above 50 g per day, Wilson's disease, idiopathic hemochromatosis or homozygous alpha-1 antitrypsin deficiency were excluded. Sera of all patients were tested for antibodies to hepatitis C virus with second-generation enzyme-linked immunoassay and recombinant immunoblot assay, for markers of hepatitis B and hepatitis D viruses, and for autoantibodies. Detection of hepatitis C viral RNA by polymerase chain reaction was attempted if recombinant immunoblot assay was indeterminate, or if both viral and autoimmune markers were absent. If no serum markers, including HCV RNA, were found, the cause of chronic hepatitis was considered as unknown. The cause of chronic hepatitis was found in 343 cases (96.4%), including three patients with HCV RNA as the only marker. Chronic hepatitis was related to hepatitis C virus in 51.8%, to hepatitis B virus in 32.8% (including hepatitis D infection in 3.1%), and to autoimmune hepatitis in 5.9% of cases, respectively. No case of drug-induced chronic hepatitis was observed in this series, and in 5.9% of cases, there were probably multiple causes. Finally, in 3.6% of the cases the cause of chronic hepatitis remained unknown despite extensive evaluation suggesting the existence of a non-A, non-B, non-C viral agent.
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PMID:Etiology of chronic hepatitis in France: predominant role of hepatitis C virus. 752 73

Infection with reovirus serotype 3 (reo 3) has been postulated to be associated with extrahepatic biliary atresia (EHBA) in infants, and with neonatal hepatitis (NNH). We have investigated this association by assaying antireo 3 antibodies in sera from infants (aged < 4 months) with EHBA (n = 40), NNH (59), cholestatic liver disease due to other causes (61) and control infants with no liver disease (138). Antireo 3 immunoglobulins (Ig) of the G, A and M classes were measured by enzyme-linked immunosorbent assay. No differences in the prevalence of antireo 3 IgG or IgA were found between any of the four groups. A significantly higher prevalence of positive antireo 3 IgM was found in infants with EHBA (12/40), NNH (12/59) or cholestatic liver disease associated with parenteral nutrition (7/17), alpha-1 antitrypsin deficiency (4/15) or a variety of other causes (15/29) compared with control infants (13/138). These data support an association between reovirus 3 infection and cholestatic liver disease in infants. The nature of this association may differ for EHBA, NNH and cholestatic liver disease due to other causes, and remains to be determined.
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PMID:Reovirus serotype 3 infection in infants with extrahepatic biliary atresia or neonatal hepatitis. 805 25


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