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)

Theoccurrence of PAS-positive, diastase-resistant, inclusion bodies in hepatocytes has been used as a marker of heterozygous (Pi MZ) alpha1-antitrypsin deficiency in order to study the frequency of lung, liver and malignant disease in a consecutive autopsy material from a well defined population. Typical PAS-positive inclusion bodies were found in the liver in 26 (3.7%) of the 700 cases studied. In these 26 subjects both liver (cirrhosis or fibrosis) and lung disease (emphysema) were significantly more prevalent (p less than 0.001) than among PAS-negative controls. The prevalence of malignant disease did not differ between the groups. The results are consistent with the concept that heterozygous (Pi MZ) alpha1-antitrypsin deficiency predisposes to both liver and lung disease but does not influence the survival rate.
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PMID:Liver, lung and malignant disease in heterozygous (Pi MZ) alpha1-antitrypsin deficiency. 17 17

Eight cases of liver disease associated with alpha-1-antitrypsin deficiency are described. Six of the cases, including the only childhood case, showed no evidence of lung disease. An occult but variable clinical course is defined in this disorder. A spectrum in the severity of tissue change was noted, and in some instances, extensive liver disease was correlated with relatively minor derangement in liver function. While this form of liver disease is uncommon, it should be included in the differential diagnosis of adult liver disease. Screening for alpha-1-antitrypsin globules in periodic acid-Schiff stained liver tissue sections should be considered in certain cases of cryptogenic liver disease in adults, particularly when advanced disease presents suddenly, where micronodular (portal) cirrhosis is unrelated to excessive alcohol use, or where tissue changes exceed those anticipated from serum biochemical abnormalities. In most of these cases, tissue findings from liver biopsy or autopsy, rather than clinical suspicion, led to the diagnosis. The availability of a simple and reliable immunoperoxidase technique, applicable to routinely processed tissue samples, allowed for rapid and specific diagnosis in all cases. This immunocytochemical method has proven its usefulness in the prospective and retrospective tissue diagnosis of alpha-1-antitrypsin deficiency and associated liver disease.
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PMID:Immunocytochemical diagnosis of alpha-1-antitrypsin deficiency. 35 32

A deficiency of the major serum alpha1-globulin, the alpha1-antitrypsin, was first described in five patients by Laurell and Eriksson in Sweden in 1963. It soon became obvious that severe alpha1-antitrypsin deficiency was familial, and highly associated with chronic lung disease, having its onset in the third or fourth decade of life. Since the early descriptions of this common deficiency state, it has become clearly associated with familial emphysema in some families, familial infantile cirrhosis in others, and occasionally with a combination of childhood lung and liver disease in siblings. For the pediatrician, severe alpha1-antitrypsin deficiency now enters into the differential diagnosis of both chronic pulmonary disease in childhood and obstructive jaundice in the newborn period; In addition, low levels of alpha1-antitrypsin in serum are characteristic of respiratory distress syndrome, and elevations of this protein may be found in a variety of clinical situations. The, alpha1-antitrypsin probably functions as a major control protein against the tissue-damaging effects of both endogenous and exogenous enzymes. This review will cover several basic and clinical features of this protein with respect to its importance in pediatrics.
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PMID:Basic and clinical aspects of the alpha1-antitrypsin. 109 21

Hepatodiaphragmatic interposition of the intestine (HDI) is a common radiological finding in the normal population of Iran compared to Western countries (0.22% vs 0.02%). A high incidence of this finding was observed in patients with chronic lung disease (2.7%) and in women near term pregnancy (2.0%). A striking incidence of 22% was observed in patients with post-necrotic cirrhosis. Probable contributing factors are: (a) a redundant bowel with increased mobility, (b) an enlarged lower thoracic outlet in conditions such as pregnancy, emphysema, and cirrhosis with ascites, (c) an atrophic liver of post-necrotic cirrhosis, which leaves adequate space for intrusion of adjacent bowel segments. HDI of the bowel is generally an asymptomatic condition and its finding on a chest radiograph suggests atrophic cirrhosis of the liver.
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PMID:Hepatodiaphragmatic interposition of the intestine (Chilaiditi's syndrome). 126 Nov 92

Cystic fibrosis (CF) is the commonest, fatal, autosomal recessive disorder and is associated with lung sepsis, pancreatic failure and elevated sweat electrolytes. The CF gene on chromosome 7 encodes a protein identified as CF transmembrane conductance regulator (CFTR) which regulates chloride ion transport in epithelial cell membranes. Almost 100 mutations have been identified in this gene which cause defective chloride-channel control. Recently, this abnormality has been reversed in affected CF cells in vitro by retrovirus-mediated transfer of a normal gene. Fifty years ago, most cases died in childhood, but now up to 80% reach adulthood. Chronic lung sepsis is the principal cause of death, and intensive antibiotic therapy with chest physiotherapy is used to control this. Advanced lung disease can be successfully treated by heart-lung transplantation. Nebulised recombinant DNase and antineutrophil elastase agents such as alpha-1-antitrypsin and secretory leucoprotease inhibitor are potentially promising new therapies. Pancreatic insufficiency is managed by high-calorie diets and enteric coated enzyme supplements. Other prominent gastrointestinal complications include meconium ileus equivalent, biliary cirrhosis and cholelithiasis. Specially dedicated CF centres have led to improved survival rates and allow experienced staff to treat the many complications of CF while promoting research in this multisystem disorder.
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PMID:Cystic fibrosis in adolescents and adults. The coming of age of cystic fibrosis. 155 Dec 44

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

Postmortem examination of 21 patients showed a vacuolar myelopathy resembling that associated with the acquired immunodeficiency syndrome. Underlying diseases included six cases of leukemia or lymphoma, five of carcinoma, three of systemic lupus erythematosus, two of chronic lung disease, and one each of cadaveric renal transplant, cirrhosis, diabetes, hemophagocytic syndrome, and viral encephalitis. Fourteen patients were on long-term steroid therapy and 10 of these also had immunosuppressive chemotherapy. No patient had the acquired immunodeficiency syndrome, although one received blood transfusions in 1978. Signs and symptoms consistent with myelopathy included paraparesis in seven patients, ataxia in one, and bilateral extensor plantar reflexes in one. Microscopic examination showed vacuolation in spinal cord white matter primarily located in posterior and lateral columns. Lipid-laden macrophages and axonal changes were proportional to the severity of the vacuolation, which was severe in five patients, moderate in 10, and mild in six. Eight patients had coexistent viral diseases elsewhere in the central nervous system, but viral-associated antigens or genomic material was not found in regions of vacuolated spinal cord white matter. Although the etiology of these myelopathies is unknown, their association with immune suppression and coexistent viral infection of the central nervous system suggests that an opportunistic viral infection may be important.
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PMID:Idiopathic myelopathies with white matter vacuolation in non-acquired immunodeficiency syndrome patients. 186 65

To examine possible health risks associated with fire fighting, a 20-year Proportionate Mortality Ratio (PMR) study was conducted involving all male fire fighters with at least one year of service in the City of Honolulu Fire Department. The observed cause of death, as determined by the death certificates, was compared statistically to the expected numbers of deaths for all males over age 20 in Hawaii's general population. Significant increases in risk of death were found for brain cancer (Risk Ratio = 3.78), prostate cancer (Risk Ratio = 2.61), and cirrhosis of the liver (Risk Ratio = 2.3). A significant decrease in mortality was found for lung disease with a risk ratio of 0.37. No deaths were attributed to suicide nor to a category which included allergic, endocrine and nutritional diseases. Since fire fighters are known to suffer exposure to carcinogens and toxins, additional studies would be helpful in order to clarify possible risks to health associated with fire fighting on a long-term exposure basis.
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PMID:Risk of death among Honolulu fire fighters. 206 Oct 32

Alpha 1-protease inhibitor can exist as over 70 different biochemical variants (the Pi system) which are inherited as autosomal-codominant alleles. The majority of these variants are of no clinical significance. Epidemiologically, the most abundant are Pi types M, S, and Z. Homozygotes of type Z have only 10%-20% of the normal serum concentration of the inhibitor and have an increased risk of developing pulmonary emphysema. Cigarette smoking is the most important risk factor. A minority of Pi Z homozygotes (10%-20%) develop a form of neonatal hepatitis and a proportion of these suffer from liver cirrhosis in adult life. Heterozygotes of Pi type SZ have about one third of the normal serum alpha 1-protease inhibitor concentration but this phenotype does not in itself appear to be a significant emphysema risk factor. Heterozygotes of Pi type MZ are thought to have a moderately increased risk of developing emphysema but only if they smoke; there is also evidence for an increased risk of cirrhosis among subjects of type MZ. No excessive risk appears to be attached to the MS phenotype. Cumulative survival curves have suggested that type Z homozygotes have a poor prognosis but such estimates are based on clinic or hospital patients who already have respiratory symptoms. Calculations based on population frequencies however, suggest that about 90% of the total number of type Z subjects are not accounted for in such surveys. Their whereabouts remains unclear at present; some will undoubtedly have died of liver or lung disease but it is possible that the majority escape and live undetected among the general population.
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PMID:The epidemiology of alpha 1-antitrypsin deficiency. 211 62

Hyaluronic acid (HA), an unbranched high molecular weight polysaccharide can now be measured by several immunometric assays. The connective tissues are the main source of HA and it is destroyed mainly in the liver. Very high levels of HA occur in mesothelioma. Wilms' tumour and acute liver failure, and moderate increases in rheumatoid diseases, renal failure and cirrhosis. Local increased production of HA is a feature of several forms of lung disease. HA is an indicator of connective tissue turnover, of the function of the receptor mechanisms for its capture and destruction by the liver, and of the removal of low molecular weight fragments by the kidney.
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PMID:Clinical significance of the immunometric measurements of hyaluronic acid. 228 24


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