1/16. alpha1-Antitrypsin deficiency and liver disease in children.This report describes the clinical, biochemical, and hepatic morphologic findings in ten children with severe serum alpha1-antitrypsin deficiency. Genetic protease inhibitor (Pi) phenotyping, using acid-starch gel and crossed antigen-antibody electrophoresis, demonstrated Pi phenotype ZZ in all our cases. In eight patients, manifestations of liver disease appeared during the first year of life. The case reports show that alpha1-antitrypsin deficiency should be suspected in any child with neonatal hepatitis, unexplained hepatomegaly or splenomegaly, or cirrhosis. In our report, one infant is normal at age 6 months, and one infant had progressive hepatic damage that culminated in liver failure and death at age 6 months. The variable clinical course and prognosis for infants with severe alpha1-antitrypsin deficiency is well illustrated by these two infants.- - - - - - - - - - ranking = 1keywords = hepatitis (Clic here for more details about this article) |
2/16. alpha 1-antitrypsin deficiency and infantile liver disease.Infantile liver disease with deficiency of serum alpha1-antitrypsin is illustrated by a description of the clinical, biochemical, and pathological findings in two affected families. The simplicity of the diagnostic tests is emphasized. review of 61 biopsies of liver from children and adolescents provided a further 3 cases. It is prudent to exclude this metabolic defect in children with a history of "neonatal hepatitis".- - - - - - - - - - ranking = 1keywords = hepatitis (Clic here for more details about this article) |
3/16. Immunological changes and liver disease associated with alpha1-antitrypsin deficiency.A female aged 60 years with heterozygous alpha-1-antitrypsin deficiency developed a progressive and ultimately fatal liver disease with the clinical, biochemical, immunological and histological characteristics of active chronic hepatitis. It is suggested that the hepatic disease of A-AT deficiency be included among the types of liver disease which may initiate a progressive immunopathic response.- - - - - - - - - - ranking = 1keywords = hepatitis (Clic here for more details about this article) |
4/16. A patient with autoimmune hepatitis type I, Addison's disease, atrophic thyroiditis, atrophic gastritis, exocrine pancreatic insufficiency, and heterozygous alpha1-antitrypsin deficiency.This report describes a 60-yr-old white male presenting with decompensated liver cirrhosis. He had a history of Addison's disease for 36 yr, primary hypothyroidism for 5 yr, and moderate alcohol consumption. His laboratory studies and a liver biopsy supported the diagnosis of autoimmune hepatitis. Furthermore, he was found to be heterozygous for the piZ allele of the alpha1-antitrypsin gene with normal serum alpha1-antitrypsin levels and absence of pulmonary affection. Mucosal biopsies revealed moderately severe atrophic gastritis; however, signs of pernicious anemia were missing. An association of autoimmune hepatitis with endocrine disorders and atrophic gastritis has been described. Long term hydrocortisone therapy for his adrenal insufficiency may have prevented a faster course of the liver disease, whereas the heterozygous alpha1-antitrypsin deficiency and moderate alcohol consumption constituted additional risk factors ultimately leading to the development of cirrhosis.- - - - - - - - - - ranking = 6keywords = hepatitis (Clic here for more details about this article) |
5/16. Successful treatment of de novo autoimmune hepatitis and cirrhosis after pediatric liver transplantation.Over a 15-yr period of observation, among the 205 children who underwent liver transplantations, one of them developed a particular type of late graft dysfunction with clinical and histological similarity to autoimmune hepatitis. The patient had alpha1-antitrypsin deficiency and did not previously have autoimmune hepatitis or any other autoimmune disease before transplantation. Infectious and surgical complications were excluded. After repeated episodes of unexplained fluctuations of liver function tests and liver biopsies demonstrating reactive or a biliary pattern, without any corresponding alteration of percutaneous cholangiography, a liver-biopsy sample taken 4 yr after the transplant showed active chronic hepatitis progressing to cirrhosis, portal lymphocyte aggregates, and a large number of plasma cells. At that time, autoantibodies (gastric parietal cell antibody, liver-kidney microsomal antibody, and anti-hepatic cytosol) were positive and serum IgG levels were high. Based on these findings of autoimmune disease, a diagnosis of 'de novo autoimmune hepatitis' was made. The treatment consisted of reducing the dose of cyclosporine, reintroduction of corticosteroids, and addition of mycophenolate mofetil. After 19 months of treatment, a new liver-biopsy sample showed marked reduction of portal and lobular inflammatory infiltrate, with regression of fibrosis and of the architectural disruption. At that time, serum autoantibodies became negative. The last liver-biopsy sample showed inactive cirrhosis and disappearance of interface hepatitis and of plasma cell infiltrate. Presently, 9 yr after the transplantation, the patient is doing well, with normal liver function tests and no evidence of cirrhosis. Her immunosuppressive therapy consists of tacrolimus, mycophenolate mofetil, and prednisolone. In conclusion, the present case demonstrates that de novo autoimmune hepatitis can appear in liver-transplant patients despite appropriate anti-rejection immunosuppression, and triple therapy with tacrolimus, mycophenolate mofetil, and prednisolone could sustain the graft and prevent retransplantation.- - - - - - - - - - ranking = 10keywords = hepatitis (Clic here for more details about this article) |
6/16. Alpha-1-antitrypsin Pi S phenotype and liver cell inclusion bodies in alcoholic hepatitis.Typical liver cell inclusions of alpha-1-antitrypsin deficiency were found in a patient with the Pi S phenotype and acute alcoholic hepatitis. It is suggested that the inclusions resulted from the combined effects of the S phenotype and alcohol and, on the basis of the known chemistry of the variant antitrypsins, that the lowered serum concentration of antitrypsin associated with the S allele may be due to hepatic holdup.- - - - - - - - - - ranking = 5keywords = hepatitis (Clic here for more details about this article) |
7/16. Neonatal hepatitis and alpha-1-antitrypsin deficiency. The prognosis in five patients.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.- - - - - - - - - - ranking = 6keywords = hepatitis (Clic here for more details about this article) |
8/16. Cirrhosis and hepatocellular carcinoma in a patient with heterozygous (MZ) alpha-1-antitrypsin deficiency.A patient is described with micronodular cirrhosis, partial (heterozygous, MZ) deficiency of alpha-1-antitrypsin (AAT) and hepatocellular carcinoma. The patient did not drink alcohol and all serological markers of infection with hepatitis b virus were absent. death was due to intra-peritoneal bleeding from a multifocal liver tumour. histology revealed multiple intracytoplasmic AAT globules in hepatocytes at the periphery of the cirrhotic nodules. copper granules, present in the same non-neoplastic liver cells may have resulted from minor cholestasis. Within the neoplastic hepatocytes AAT globules were sparse and copper deposits co-existed with the globular variant of mallory bodies. The case is presented in support of the postulated association of partial deficiency of AAT, chronic liver disease and hepatic neoplasia.- - - - - - - - - - ranking = 1keywords = hepatitis (Clic here for more details about this article) |
9/16. Alpha-1-antitrypsin deficiency in adults.A clinicopathological examination was carried out on eight adult patients with alpha-1-antitrypsin (ATT) deficiency. Phenotyping confirmed five patients with PiMZ, two patients with PiZ-, and one patient with PiZZ. Cirrhosis was found in six of the patients, four of whom had a history of excessive ethanol consumption. Hepatitis B surface antigen was positive in two patients with cirrhosis. Dysplastic change was present in four patients, although no neoplasia in the liver was found in all patients. All patients had periodic acid-Schiff positive and diastase resistant inclusions of hepatocytes, which were identified as ATT by indirect immunoperoxidase stain. The possibility of the combined effects of ATT inclusions and such harmful stimuli such as alcohol or viral hepatitis infection may render the hepatocytes more susceptible to damage, and may contribute to development of cirrhosis.- - - - - - - - - - ranking = 1keywords = hepatitis (Clic here for more details about this article) |
10/16. Modification of the alpha 1-antitrypsin phenotype in neonatal hepatitis.Two cases of neonatal hepatitis are described, one related to cytomegalovirus infection and the other idiopathic. In both infants a transient abnormality of the alpha 1-antitrypsin phenotype, inconsistent with the parent's phenotypes, reverted to normal during the convalescent phase of the illness.- - - - - - - - - - ranking = 5keywords = hepatitis (Clic here for more details about this article) |
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