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

Among 200,000 infants screened for alpha 1-antitrypsin (alpha 1-AT) deficiency, 125 Pi Z, 48 Pi Z, 1Pi S-, and 2 Pi Z- children were followed up prospectively. Eleven percent of the Pi Z infants had neonatal cholestasis, and at 2 years of age three of them had cirrhosis. About 50% of the asymptomatic Pi Z and Pi Z- subjects occasionally had serum alanine aminotransferase (ALAT) levels above normal, and in 15% of them the levels were probably permanently increased during the first two years of life. Two previously healthy Pi Z children had transient symptoms of liver disease at age 2 years in connection with severe infections. The Pi SZ children had no significant clinical liver disease and only two had abnormal serum ALAT levels. Among Pi Z children up to 2 years of age the following diseases were also encountered: eight had recurrent bronchitis with wheezing, two had persistant cough (both had cirrhosis), one had severe pneumonia, one was mentally retarded, three had urinary tract infections, six had pronounced eczema, one had allergic shock, and three had congenital malformations. Among the Pi SZ children one had recurrent bronchitis, one had eczema, and one had juvenile rheumatoid arthritis. Three children, two Pi Z and one Pi SZ, have died. The Pi Z- and Pi S- subjects were healthy. In conclusion a variety of significant symptoms were observed in about 30% of the Pi Z children compared with 6% of the Pi SZ children during the first two years of life.
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PMID:alpha 1-antitrypsin deficiency in early childhood. 30 15

Alpha-1-antitrypsin deficiency (AAT) is one of the three most common lethal genetic diseases in the caucasian population (together with cystic fibrosis and Down syndrome). Its primary manifestation is early-onset panacinar emphysema. Slowly progressive dyspnea is the primary symptom, although some patients initially have symptoms of cough, sputum production, or wheezing. A minority of patients develops hepatic cirrhosis. We present a case of a 40 year-old male, light smoker, with chronic obstructive lung disease with predominance of panacinar emphysema, with AAT deficiency (72 mg/dl; normal values = 200-300 mg/dl) complicated with cor pulmonale and chronic respiratory failure. The main clinical consequence of AAT deficiency is the early onset of panacinar emphysema, typically more severe at the lung bases. Smoking plays an important part in the natural history of the disease, both increasing the severity and decreasing the age at onset of emphysema.
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PMID:A rare case of pulmonary emphysema. 1838 23

A 66-year-old woman with hepatitis C related liver cirrhosis presented to our hospital for dyspnoea and cyanosis. Tachypnoea, low grade fever, clubbed fingers, palmar erythaema, spider angioma, wheezing and severe hypoxaemia were found. Chronic obstructive pulmonary disease (COPD) with acute exacerbation was diagnosed and she recovered after bronchodilator and antibiotic treatment. However, dyspnoea and hypoxaemia recurred with widened alveolar-arterial gradient, which was unusual in COPD. A pulmonary function test showed moderate obstructive ventilatory defect and chest high resolution CT scan disclosed some dilated vessels over the left lower lung. Interestingly, platypnoea and orthodeoxia were observed, therefore hepatopulmonary syndrome was suspected and was confirmed by contrast echocardiography, lung perfusion scan and 100% oxygen administration. Her dyspnoea improved gradually after oxygen use. She was followed in our clinic for 3 years and her respiratory condition on home oxygen remained stable, as did the liver cirrhosis.
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PMID:Unusual dyspnoea in a patient with liver cirrhosis. 2168 87