Ai-Antitrypsin deficiency

At present, severe ai-antitrypsin deficiency liver disease can be successfully treated by liver transplantation. In the future, introduction of the gene for normal ttj-antitrypsin into hepatocytes may become possible, but this would not stop production of the PiZ protein. Figure 50-7 is a scheme of the causation of this disease. 

J. N. Udall, K. J. Bloch, and W. A. Wtalker. Transport of proteases across neonatal intestine and development of liver disease In Infanta with ai-antitrypsin deficiency. 

Wilson s disease, haemochromatosis, galactosaemia, glycogenosis type IV, ai-antitrypsin deficiency, tyrosin-aemia, idiopathic neonatal hepatitis, Niemann-Pick disease, Gaucher s disease, fructose intolerance, defective urea cycle, etc. 

The clinical course can be unfavourably affected by various risk factors (e.g. race, gender, advanced age, immune status, genetics) as well as by alcohol abuse (275, 337, 363), toxins, coinfections and chemicals. Conversely, the course and prognosis of HBV, HDV and HIV infections as well as of metabolic diseases (e.g. porphyria cutanea tarda, ai-antitrypsin deficiency) can deteriorate as a result of hepatitis C. 

Fig. 31.10 Serologically confirmed ai-antitrypsin deficiency type KZ in a juvenile patient (homozygosity). Globular ai-antitrypsin deposits in the hepatocytes ( ) KZ immunohistochemistry with RZ antibody ATZl 1...

Crystal, R.G. ai-antitrypsin deficiency, emphysema and liver disease. Genetic basis and strategies for therapy. J. Clin. Invest. 1990 85 1343-1352... 

Filipponi, F., Soubrane, O., Labrousse, F., Devictor, D., Bernard, O., Valayer, J., Houssin, D. Liver transplantation for end-stage liver disease associated with ai-antitrypsin deficiency in children pretransplant natural history, timing and results of transplantation. J. Hepatol. 1994 20 72-78... 

Chronic liver disease in heterozygous ai-antitrypsin deficiency PiZ. J. Hepatol. 2000 33 883-892... 

Sveger, T., Eriksson, S. The liver in adolescents with ai-antitrypsin deficiency. Hepatology 1995 22 514—517... 

Chronic obstructive respiratory disease ai-antitrypsin deficiency Mucoviscidosis Sarcoidosis... 

Late disease 2-12 weeks Intracranial, skin, gastrointestinal Mainly idiopathic, can be the presenting feature of an underlying disease (for example cystic fibrosis, ai-antitrypsin deficiency, biliary atresia there is often some degree of cholestasis... 

There is abundant evidence that a diverse array of pro-teinases, particularly those of macrophage or leucocyte origin, have a fundamental role in the injury processes associated with diseases such as ai-antitrypsin deficiency, smoking-related emphysema, cystic fibrosis, bronchiectasis, bronchitis and other respiratory syndromes (Karlinsky and Snider, 1978 Stockley, 1983 Senior and Campbell, 1983 Surer etal., 1984 Janoff, 1985 Snider etal., 1991). However, there has been little exploration of their potential involvement in other airway disorders that have an inflammatory cell aetiology, such as certain types of specialized fibrotic disorders including chronic severe asthma. This is particularly true for the matrix metalloproteinases (MMPs), despite the expectation from their individual substrate specificities (Emonard and... 

Hemochromatosis Wilson s disease ai-Antitrypsin deficiency Biliary... 

Tobacco smoke ai -Antitrypsin deficiency Occupational hazards Physical Examination... 

There is epidemiologic evidence to suggest an increased prevalence of duodenal ulcers in patients with certain chronic diseases, but the pathophysiologic mechanisms of these associations are uncertain. A strong association exists in patients with systemic mastocytosis, multiple endocrine neoplasia type 1, chronic pulmonary diseases, chronic renal failure, kidney stones, hepatic cirrhosis, and ai-antitrypsin deficiency. An association may exist in patients with cystic fibrosis, chronic pancreatitis, Crohn s disease, coronary artery disease, polycythemia vera, and hyperparathyroidism. 

Metabolic Hemochromatosis, porphyria, ai-antitrypsin deficiency, Wilson s disease... 

Increased uptake of large molecules can be expected in all pathologies where the gut is damaged or where the structure of the villi is changed. In patients with eczema and food allergy, the intestinal permeability of the probe molecule polyethylene glycol is increased [47], In infants with ai-antitrypsin deficiency, trypsin can be transported to the systemic circulation and reach the liver, causing inflammation and eventually fibrosis [48]. An increase in pinocytosis is also present in malnutrition. 

Anti-thrombin III deficiency (40), ai-antitrypsin deficiency (40), hereditary angioedema (41) Fructose-1,6-diphosphatase deficiency (10) Sucrase-isomaltase deficiency (42) Pyridoxine-responsive anemia (43)... 

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