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)

alpha 1-antitrypsin (alpha 1AT) of the Pi type Z is associated with two diseases: pulmonary emphysema and cirrhosis of the liver. We report 23 families with both parents heterozygous for the PiZ allele, characterized from our own analysis and from world literature sources. All families were identified through members expressing disease. From the extended pedigrees, 18 backcross families (parents with Pi types MM and MZ) were identified. Analysis of the backcross families reveals a significant increase in Pi MZ offspring (.73) among families where the male is heterozygous. The distortion is not detected among families where the female is heterozygous. Among the matings where both parents are heterozygous, we found 0.43 Pi ZZ from families where one or more members expressed hepatic cirrhosis, and 0.40 Pi ZZ for total families studied. This contrasts to the 0.25 Pi ZZ expected, but is consistent with the distortion observed in backcross matings. The implications of various statistical approaches are discussed, and we point out why our findings differ from previous reports. We suggest a possible biological explanation residing in the fertilization process.
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PMID:Segregation distortion of the alpha 1-antitrypsin Pi Z allele. 31 54

alpha1-Antitrypsin (alpha1-AT) deficiency is an autosomal recessive inherited disease. The serum concentration of the protease inhibitor (Pi) alpha1-AT is controlled by a set of codominant allelic genes, constituting the so-called Pi system. Abnormal conditions reported in connection with severe alpha1-AT deficiency of the PiZZ type have been, in the newborn, cholestasis and progressive juvenile cirrhosis, and in adults, panacinar pulmonary emphysema and liver disease. Skin changes have not been described previously in connection with this disease picture. The case is persistent cutaneous vasculitis in a 2-year-old child with alpha1-AT deficiency of the PiZZ type, heterozygosity for the Duarte variant of galactose-1-phosphate uridyl transferase, and neonatal liver disease. A pathogenetic relationship may exist between the biochemical defects and both the skin and liver diseases.
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PMID:alpha1-Antitrypsin deficiency associated with persistent cutaneous vasculitis. Occurrence in a child with liver disease. 35 72

Extremely deficient levels of alpha-1-antitrypsin (ALPHA1AT) predispose such deficient individuals to the development of emphysema and cirrhosis. Protease inhibitor (Pi) typing has clarified that the inherited deficiency is codominant. A glycoprotein with antigenic characteristics of alpha1AT is found in the endoplasmic reticulum of the hepatocytes of individuals with PiZ phenotype. No therapy is available except liver transplantation. Although biochemical advances in defining the nature of alpha1AT deficiency are progressing, the pathogenesis of the liver disease remains an enigma.
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PMID:The current status of alpha-1-antityrpsin, a protease inhibitor, in gastrointestinal disease. 76 97

The combination of pulmonary emphysema and liver cirrhosis in early childhood is documented for the first time in a 31/2 year old girl with homozygous (ZZ) deficiency of a1-antitrypsin. Examination of relatives in the generation of parents and grand parents revealed 7 heterozygous (MS) and five normal members (MM). Lung function tests showed altered respiratory function in 4 out of these 7 heterozygous subjects. Measurement of trypsin inhibitory capacity in plasma gave a good correlation to the genotype, however determinations of a1-antitrypsin coincided with it to a lesser degree. A high trypsin inhibitory capacity was detected in the tears of the propositi, which was shown to be immunologically distinguishable from serum a1-antitrypsin. Similarly, antiprotease activity was demonstrated in nasal secretions. This too did not reflect the serum profile.
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PMID:[Alpha 1-anti trypsin-deficiency: combination of pulmonary emphysema and liver cirrhosis in infancy (author's transl)]. 80 42

An analysis has been made of 235 deaths that occurred among 1905 patients with peptic ulcer who constituted a random sample of the occurrence of ulcer disease in an area of Denmark comprising half a million inhabitants. The disease itself, according to the death certificate, was considered the primary cause of death in 10% of the cases; half of these had been operated on immediately before death. The other patients died more frequently than expected from the following causes: chronic bronchitis, pulmonary emphysema, cancer of the lung, cirrhosis of the liver, and cancer of the pancreas. Although the comorbidity with chronic bronchitis and emphysema was especially pronounced in patients with gastric ulcer, the association with liver cirrhosis and cancer of the pancreas occurred only in patients with duodenal ulcer. In women the mortality rate attributable to cardiac and vascular diseases was lower than expected. No excess coincidence of suicide was found. Berkson's fallacy is considered to be of much less importance as a possible explanation of the comorbidity found in the present study than in the majority of publications concerned with this question.
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PMID:Causes of death in duodenal and gastric ulcer. 90 79

In the contemporary United States, mortality is 60% higher for males than for females. Forty percent of the excess of male mortality is due to arteriosclerotic heart disease, which is more common among men in part because they smoke cigarettes more than women do, and apparently also because they more often develop the competitive, aggressive Coronary Prone Behavior Pattern. Men who do not develop this Behavior Pattern may have as low a risk of coronary heart disease as comparable women. Oophorectomy of young women may increase the risk of coronary heart disease, but administration of female hormones generally does not reduce risk. One third of the sex differential in mortality is due to men's higher rates of suicide, fatal motor vehicle and other accidents, cirrhosis of the liver, respiratory cancers and emphysema. Each of these causes of death is linked to behaviours which are encouraged or accepted more in males than in females: using guns, drinking alcohol, smoking, working at hazardous jobs, and seeming to be fearless. Thus, the behaviors expected of males in our society make a major contribution to their elevated mortality.
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PMID:Why do women liver longer than men? 101 12

In the contemporary United States, males have 60 percent higher mortality than females. In Part I, published in the previous issue, we showed that 40 percent of this sex differential in mortality is due to a twofold elevation of arteriosclerotic heart disease among men. Major causes of higher rates of arteriosclerotic heart disease in men include greater cigarette smoking among men; probably a greater prevalence of the competitive, aggressive Coronary Prone Behavior Pattern among men; and possibly a protective role of female hormones. In addition, men have higher death rates for lung cancer and emphysema, primarily because more men smoke cigarettes. In Part II we analyze the other major causes of men's higher death rates: accidents, suicide, and cirrhosis of the liver. Each of these is related to behaviors which are encouraged or accepted more in men than in women in our society--for example, using guns, being adventurous and acting unafraid, working at hazardous jobs and drinking alcohol. We conclude with suggestions for reducing male mortality; for example, by changing the social conditions which foster in men the behaviors that elevate their mortality.
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PMID:Why do women live longer than men? 101 15

An elderly man with long-standing pulmonary emphysema was seen with recent onset of steatorrhea and ascites. He had very low levels of serum alpha1-antitrypsin, hepatic cirrhosis, and intestinal mucosal atrophy. We believe this this combination of findings did not occur by chance.
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PMID:Alpha-1-antitrypsin deficiency, emphysema, cirrhosis, and intestinal mucosal atrophy. 107 83

A case of a 70-year-old woman with a history of gastric ulcer and several pneumonias is presented. She was found to have pulmonary emphysema, severe alpha-1-antitrypsin (alpha1AT) deficiency and raised serum mitochondrial antibodies. Surgical liver biopsy showed portal liver cirrhosis, PAS-positive, diastaseresistant globules in the hepatocytes and changes interpreted as florid duct lesion of primary biliary cirrhosis. A brother has severe alpha1AT deficiency. Two daughters had raised mitochondrial antibodies. One of the latter had a granulomatous hepatitis, a common finding in primary biliary cirrhosis. The association of alpha1AT deficiency and primary biliary cirrhosis does not seem to have been described previously.
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PMID:Alpha-1-antitrypsin deficiency, mitochondrial antibodies and possible primary biliary cirrhosis. A case report and family study. 108 Sep 23

Three adults with alpha 1-antitrypsin deficiency are described. In two of the cases the deficiency was genetically determined (cases 1 and 2), and each demonstrated unusual features of the disease. The liver in case 1 (homozygous) showed cholangiolar hyperplasia which has been recorded only once before. Case 2 (heterozygous) had emphysema and cirrhosis, a combination not previously documented in a heterozygote, in addition to malabsorption. Case 3 represents a case of spurious alpha 1-antitrypsin deficiency with cirrhosis included to emphasize the diagnostic improtance of phenotyping in such cases.
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PMID:Adult alpha1-antitrypsin deficiency. 108 Nov


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