Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023890 (cirrhosis)
 42,195 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a 2-wk-old baby with alpha 1-antitrypsin deficiency of Pizz phenotype, who presented with massive ascites and hepatomegaly. Liver biopsy disclosed active established cirrhosis. Unlike all other reported newborns with Pizz type, the patient had no evidence of neonatal cholestatic jaundice. The presentation of Pizz with established liver cirrhosis at such an early age not only adds another cause of cryptogenic cirrhosis in the neonatal period, but also points to a liver insult in some patients with Pizz, which is already determined in utero.
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PMID:alpha 1-antitrypsin deficiency presenting with ascites and cirrhosis in the neonatal period. 660 27

A 57-year-old woman with rheumatoid arthritis and alpha 1-antitrypsin deficiency (PiMZ phenotype), recovering from intraabdominal sepsis in association with gastric ulcer perforation, had portal hypertension. An operative liver biopsy specimen showed a distinctive elastosis of the portal tracts without cirrhosis.
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PMID:Hepatic changes in a patient with alpha 1-antitrypsin deficiency (MZ phenotype). Portal tract elastosis and noncirrhotic portal hypertension. 660 30

In a 25-year-old man we had observed the development of a liver cirrhosis leading to death from bleeding of oesophageal varices within two years. An alpha 1-antitrypsin defect (MZ-type) was detected post mortem both by serum analysis and by tissue examination. It is well documented that homozygote, e.g. SS- or ZZ-type, antitrypsin defects are frequently accompanied by liver fibrosis or cirrhosis. In 174 patients with alcoholic hepatitis or alcohol-induced cirrhosis we demonstrated the distribution of alpha 1-antitrypsin phenotypes using gel electrofocussing to clarify whether the heterozygote alpha 1-antitrypsin defect--which is accompanied only occasionally by a slightly reduced total concentration of the alpha 1-antitrypsin in the blood--has an increased incidence in such patients. Compared to the healthy population (MS-type 4.0%), we observed 9,8% MS-type in the described 174 patients. This simultaneous occurrence of a chronic, alcohol-induced liver disease with the genetic aberration of the alpha 1-antitrypsin phenotype pattern is too frequent to be attributed to mere chance and may be one cause of the increased incidence of chronic liver diseases within families documented by clinicians.
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PMID:[alpha 1-Antitrypsin phenotypes in patients with chronic liver diseases]. 660 75

The entity of chronic hepatitis has long been an enigma, and its treatment confusing. Recent studies have indicated the importance of excluding causes such as drugs, Wilson's disease and alpha 1-antitrypsin deficiency. After excluding such causes, there are 3 major groups--'autoimmune', hepatitis B, and non-A, non-B (NANB) in all of which an immunological basis for pathogenesis exists. The autoimmune group has been subdivided into a milder type (chronic persistent hepatitis) and a more severe type (chronic active hepatitis) on histological grounds. Corticosteroids are indicated in chronic active hepatitis if cirrhosis or bridging necrosis is present. However, corticosteroids are contraindicated in disease due to the hepatitis B virus where chronic active hepatitis correlates with the presence of replicating virus (serum positive for e antigen, DNA polymerase and HBV-DNA), and in such cases antiviral agents and immunomodulation are being studied. Very little is known about NANB hepatitis in the absence of an assay and there may be more than a single agent. In hepatitis B, the development of serological markers, molecular probes (HBV-DNA), natural animal hepatitis with near-identical viruses, and delta antigen (a virus requiring co-infection with hepatitis B) have all extended our knowledge so dramatically that it is hoped that the enigma of chronic hepatitis will be solved when an assay for NANB hepatitis becomes available.
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PMID:Chronic hepatitis. Aetiology and current management. 673 69

A report on 9 cases of infantile hepatopathy and cirrhosis of the liver respectively in cases of hereditary autosome-recessive alpha 1-antitrypsin deficiency (alpha 1-ATM). The genetic variants of the serum-protease-inhibitor (Pi) alpha 1-antitrypsin (alpha 1-AT) were examined by means of iso-electric focusing (Polyacrylamidgelen). The gene incidence was of the allel PiZ 0,0138 in the 868 blood donors from the Tyrol and was therefore within the range of the PiZ-frequencies seen in other Central-European populations. The other alleles PiM1, PiM2, PiM3, and PiS, point to the incidence of 0.7062, 0.1480, 0.1037, and 0.0225. The patients under observation (9) are homozygote PiZZ, the clinically healthy parents heterozygote PiZM. Risk of repetition in siblings of the patients is 25%. Early indicative symptoms are prolonged jaundice, acholic stools and hepatomegaly. Further developments are the fading of the hyperbilirubinaemia, temporary improvement in the pathological liver values, a freedom of symptoms for different lengths of time in each case, in the case of two patients, finally, decompensated cirrhosis of the liver and death in hepatic coma. The histological picture of the liver tissue shows PAS-positive storage granula in hepatozytes, intrahepatic hypoplasia of the bile duct, cholestasis as well as early cell necrobiosis, fibrosis and cirrhotic transformation. Course and severity of the liver complaint differ greatly, and are independent of the quantitative alpha 1-antitrypsin deficiency revealed, treatment is purely symptomatic.
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PMID:[Hereditary alpha 1-antitrypsin deficiency and infantile cirrhosis of the liver]. 676 50

Healthy infants and children were found to excrete bile alcohol glucuronides in urine. Following isolation and hydrolysis, the bile alcohols were estimated by capillary gas-liquid chromatography. The daily urinary excretion of the major compound, 27-nor-5 beta-cholestane-3 alpha, 7 alpha, 12 alpha, 24 xi, 25 xi-pentol (a C26 bile alcohol), ranged from 0.1 to 1.1 mumol/24 h per m2 body surface area for healthy infants and children. Two groups of patients with alpha 1-antitrypsin deficiency (phenotype PiZ) were also studied during infancy and childhood, and biochemical liver function tests and liver morphology were compared to the excretion of bile alcohols. The highest excretion of the C26 bile alcohol in urine was found in patients with alpha 1-antitrypsin deficiency and juvenile cirrhosis (2.1-8.4 mumol 24 h-1 m-2) regardless of preceding neonatal cholestasis. Patients with alpha 1-antitrypsin deficiency, neonatal cholestasis and subsequent fibrosis or normal liver morphology excreted bile alcohols within the normal range. The C26 bile alcohol constituted an average of 36% of the total bile alcohols in forty-three urine samples. This percentage was about the same in the three groups studied. The findings suggest that determination of urinary bile alcohols may be a valuable non-invasive diagnostic tool for patients with or at risk of developing liver cirrhosis.
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PMID:Urinary excretion of bile alcohols in normal children and patients with alpha 1-antitrypsin deficiency during development of liver disease. 681 11

To determine the prevalence of alpha 1-antitrypsin deficiency in patients with cirrhosis or chronic active hepatitis, we performed a five-year prospective study of liver-biopsy specimens from 1055 adults. Thirty-four patients whose specimens contained hepatocyte inclusions characteristic of the deficiency were phenotyped, and 25 had phenotype MZ (2.4 per cent). The distribution of patients with this phenotype among the 185 patients with cirrhosis diagnosed histologically was three of 84 patients with alcoholic cirrhosis (3.5 per cent), seven of 34 with non-B chronic active hepatitis (20.5 per cent), six of 28 with cryptogenic cirrhosis (21 per cent), and one of 39 with other kinds of cirrhosis (2.6 per cent). The increased prevalence of MZ in patients with cryptogenic cirrhosis and with chronic active hepatitis is highly significant (P < 0.001). Because serum levels of alpha 1-antitrypsin may be unreliable for identification of the subgroup of patients with chronic active hepatitis or cryptogenic cirrhosis, analysis of serum for the MZ phenotype and meticulous examination of biopsy specimens may be necessary.
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PMID:Heterozygous MZ alpha 1-antitrypsin deficiency in adults with chronic active hepatitis and cryptogenic cirrhosis. 696 50

Two women had each borne a child who had alpha 1-antitrypsin (alpha 1AT) deficiency Pi ZZ and who developed liver cirrhosis. In subsequent pregnancies, the women requested prenatal diagnosis. Samples of blood from the two fetuses were obtained at fetoscopy. In a control group of five Pi MM fetuses aborted by hysterotomy, the mean alpha 1AT level was 0.73 g/liter. Of the two fetuses at risk, one had an alpha 1AT concentration calculated as 0.60 g/liter, i.e., within the Pi MZ range. The electrofocusing pattern indicated a heterozygous Pi MZ phenotype which was confirmed at birth. The other fetus at risk had a markedly decreased concentration of alpha 1AT, 0.06 g/liter. Electrofocusing showed a homozygous Pi ZZ phenotype. Analysis of blood from the abortus confirmed these findings and thus the diagnosis of alpha 1AT deficiency. Speculation Most of the alpha 1-antitrypsin in amniotic fluid is derived from the mother. It therefore appears that the only possible way of making a prenatal diagnosis of alpha 1-antitrypsin deficiency is by examination of blood from the fetus. One fetus examined in the present study had an abnormal Z-pattern. This abnormality may indicate a disturbance of fetal liver function already in utero.
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PMID:Prenatal diagnosis of alpha 1-antitrypsin deficiency by analysis of fetal blood obtained at fetoscopy. 697 31

Two hundred thousand infants born in Sweden between November 1972 and September 1974 were screened at birth for alpha 1-antitrypsin (alpha 1 AT) deficiency. At age 4 years 172 of 183 children with alpha 1 AT deficiency were examined and compared with 80 randomly selected control children. The children with alpha 1 AT deficiency had the following Pi types: 118 PiZ, 50 PiSZ, 2 PiZ-, 1 PiS-, 1 PiFZ. Two PiZ children have severe liver cirrhosis and 1 PiZ boy had died of aplastic anemia. Abnormal levels of serum alanine aminotransferase (S-ALAT) were found in one PiSZ and 47 PiZ children. Upper and lower respiratory infections, otitis, eczema, urinary infections or complications of child diseases did not occur more often in children with alpha 1 AT deficiency than in controls. More parents of alpha 1 AT deficient children had stopped smoking and their fathers smoked significantly less. Forty parents of children with alpha AT deficiency PiZ answered a questionnaire concerning their reaction to, knowledge about and attitudes towards neonatal screening for alpha 1 AT deficiency. Many parents reported having reacted with lack of understanding, shock or depression upon learning that the child had alpha 1 AT deficiency. About 4 years later 44% reported still lack of understanding, and 18% depression or feelings of guilt. About two-thirds had not fully understood why alpha 1 AT deficiency had been identified, despite the fact that they had seen their doctor 3--4 times for check-ups and counselling since birth.
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PMID:Four-year-old children with alpha 1-antitrypsin deficiency. Clinical follow-up and parental attitudes towards neonatal screening. 697 48

Homogenates of liver from cases of hepatic cirrhosis due to alpha 1-antitrypsin deficiency (PiZZ) alcoholism were analyzed for their content of various lysosomal enzymes. Also determined were the specific activities of lactate dehydrogenase, glutamate-oxaloacetate transaminase, glutamate-pyruvate transaminase, and creatine phosphokinase in the extracts of liver from cases of both kinds of hepatic cirrhosis: all of these activities were within the range of control values. Similarly, the specific activities of the following lysosomal hydrolases were unremarkable: acid phosphatase, beta-mannosidase, beta-fucosidase, beta-glucuronidase and beta-glucosidase. Hexosaminidase specific activity was increased twofold in livers from the cases of cirrhosis due to alpha 1-antitrypsin deficiency. The specific activity of alpha-mannosidase (measured at pH 4.5) in homogenates of livers from PiZZ individuals with cirrhosis and those with alcoholic cirrhosis was increased two- to four-fold. Chromatography of the high-speed supernatant fraction from homogenates of livers of cirrhotic and noncirrhotic individuals on columns of DEAE-cellulose resolved alpha-mannosidase activity into two components: under the conditions employed, acid pH optimum (pH 4.5) alpha-mannosidase did not bind to the resin, whereas intermediate pH optimum (pH 5.5) alpha-mannosidase could be eluted with 0.1 mol/l NaCl. Liver from one case of (PiZZ) alpha 1-antitrypsin deficiency and emphysema, without demonstrable cirrhosis, was found to contain normal levels of both acid alpha-mannosidase and intermediate alpha-mannosidase. However, cases of cirrhosis due to alpha 1-antitrypsin deficiency contained twice as much acid alpha-mannosidase and only one third to one fourth as much intermediate alpha-mannosidase as controls. The deficiency in hepatic intermediate alpha-mannosidase was also observed in 5 of 5 cases of alcoholic cirrhosis.
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PMID:Altered alpha-mannosidase isoenzymes in the liver in hepatic cirrhosis. 697 51


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