Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0034067 (emphysema)
 11,506 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

alpha 1-Antitrypsin inhibits various proteases and excessive proteolysis. If serum and tissue concentrations of this compound are low throughout longer periods of time due to deficient synthesis, - which is a dominantly inherited trait, - progressive pulmonary emphysema will develop in adults, and liver disease in more than 50% of the cases in infancy and early childhood. Three subtypes can be distinguished: the heaptitis type, the intrahepatic hypoplasia of the bile duct system, and the cholangitic type which may imitate atresia of bile ducts. Prognosis of the liver disease depends upon the time, at which inflammatory processes stop, excessive proteolysis coming to a stop at the same time. No treatment is known for this disease.
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PMID:[alpha 1-Antitrypsin deficiency in early childhood (author's transl)]. 9 26

It is well known that incidence of chronic obstructive lung disease in adult patients with alpha 1-antitrypsin deficiency (ATD) is high. Adult carriers of this genetic trait with cirrhosis of the liver, and also with fibrosis of the liver and hepatoma, have been reported. A causal relationship between ATD and liver lesions has been suspected. In most cases liver disease has been recognized at post morten, - in a few cases, however, intra vitam, when severe symptoms of the liver disease had become apparent. The case of a 59 year-old patient is reported with PIZZ-homozygous ATD, moderate pulmonary emphysema and with marked portal fibrosis and focal transition in cirrhosis of the liver without any sequelae. The clinical course has been rather benign so far.
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PMID:[Alpha 1-antitrypsin deficiency, liver cirrhosis and pulmonary emphysema (author's transl)]. 16 Apr 81

The cytoplasmic bodies in hepatocytes thought to indicate possession of the Z allele for alpha 1-antitrypsin deficiency were found in necropsy in 10 of 64 adults with cirrhosis, four of nine with hepatic fibrosis, and four of 15 with hepatocellular carcinoma. They were also found in six of 76 adults with severe panacinar emphysema, and in four of a control series of 110 adults with neither emphysema nor liver disease. The association of the bodies with each of the three liver diseases was statistically significant, but the association of the bodies with emphysema was not. It is considered probable that heterozygous (PiMZ) alpha 1-antitrypsin deficiency is associated with an increased incidence of cirrhosis, hepatic fibrosis, and hepatocellular carcinoma.
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PMID:Alpha-1-antitrypsin bodies in the liver. 19 72

A patient who manifested both pulmonary and hepatic disease associated with alpha1-antitrypsin deficiency is described. The biological function of alpha1-antitrypsin is discussed, as well as the inheritance of deficiency states and the spectrum of disorders which may ensue. Severe deficiency of alpha1-antitrypsin has been linked with pulmonary emphysema in adult life, progressive liver disease in childhood, adult cirrhosis but rarely with both pulmonary and liver disease.
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PMID:Alpha1-antitrypsin deficiency--a literature review and a case report of a patient with chronic obstructive airways disease and cirrhosis. 30 99

Clinical data from 246 adult Swedish individuals with severe alpha1-antitrypsin deficiency, Pi Z, diagnosed in 1963--77, were analyzed. Primary emphysema was present in 109 cases. Of 75 Pi Z patients with other types of chronic obstructive pulmonary disease (COPD), all but 7 showed signs of emphysema. Median age at onset of dyspnoea in Pi Z smokers was 40 years, compared to 53 in non-smokers (p less than 0.001). Of the Pi Z individuals over the age of 50, 19% had a diagnosis of liver cirrhosis and 15% signs of glomerular renal damage. Of 91 deceased patients, 56 died from COPD and 12 from liver disease. A greatly reduced survival was demonstrated in Pi Z individuals, regardless of sex. Smoking Pi Z individuals had a significantly lower life expectancy than Pi Z non-smokers (p less than 0.01).
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PMID:Natural history and life expectancy in severe alpha1-antitrypsin deficiency, Pi Z. 30 8

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

A severe deficiency of the serum protein alpha-1-antitrypsin can be expected to occur in 1 in 750 European New Zealanders. It can usually be identified by a faint or absent alpha-1 band on serum protein electrophoresis. Forty-seven cases are presented. 31 phenotype ZZ and 16 phenotype SZ. Eighteen have developed emphysema usually by age 40 years, two show childhood liver disease. One adult died of liver disease and three of the emphysema patients had liver abnormalities at post mortem. The remainder, mainly aged less than 30 years, are as yet asymptomatic. Individuals at risk should be protected from respiratory irritants (cigarettes, dusty environments and chest infections) and liver toxins (e.g., alcohol). The partial deficiency state (MZ) which occurs in 4 percent of the population also predisposes to respiratory and perhaps liver disease.
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PMID:Alpha-1-antitrypsin deficiency in New Zealand. 108 Feb 64

Twelve percent of a sample of New Zealand Europeans were found to have variant forms of alpha-1-antitrypsin. The distribution of different variants was similar to that found in other Northern European populations. Four percent were heterozygotes for the deficiency state (Z allele) which predisposes to both emphysema and cirrhosis. An initial survey of New Zealand Maoris suggests that although they have a lower overall incidence of variants, there is an increased frequency of the deficiency Z allele. This may be a contributory factor to the susceptibility of the Maori to respiratory and liver disease.
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PMID:Alpha-1-antitrypsin variants in New Zealand. 108 13

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


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