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)

The medical literature has emphasized repeatedly the association of alpha1-antitrypsin deficiency with panacinar emphysema and cirrhosis of the liver. Previous reports have linked bronchiectasis with alpha1-antitrypsin deficiency. The present case confirms this association and adds the presence of an hepatic abnormality characteristics of alpha1-antitrypsin deficiency to complete the syndrome. The patient's phenotype was found to be MDuarteZ. It has been suggested that patients with diffuse bronchiectasis should be screened for alpha1-antitrypsin deficiency. We would add that a complete assessment of hepatic function, including liver biopsy, should be carried out in those individuals with reduced levels of alpha1-antitrypsin.
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PMID:Alpha1-antitrypsin deficiency with diffuse bronchiectasis and cirrhosis of the liver. 30 Jun 68

A study of the clinical and aetiological patterns of finger clubbing and hypertrophic osteoarthropathy was carried out over a 15-year period. 116 patients were studied. Pain is not a common symptom in patients with finger clubbing and osteoarthropathy in Nigerians, contrary to what has been reported in the literature. The cause of finger clubbing is predominantly pulmonary in origin, being responsible in 84 per cent of cases. The commonest cause in bronchiectasis, followed by empyema thoracis, bronchial carcinoma and lung abscess. Among the nonpulmonary causes are infective endocarditis, endomyocardial fibrosis and cirrhosis of liver. Hypertrophic osteoarthropathy is found in 15 cent of the patients with finger clubbing, the commonest cause being carcinoma of the bronchus.
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PMID:The clinical and aetiological pattern of finger clubbing and hypertrophic osteoarthropathy in Nigerians. 50 49

Pulmonary complications of alpha 1-antitrypsin deficiency are most commonly manifested by panlobular emphysema. This report describes histologically proven bronchiectasis in a 21 year old man with massive haemoptysis and homozygous deficiency of alpha 1-antitrypsin. Neither panlobular emphysema nor cirrhosis of the liver were present. Bronchiectasis must be considered part of the spectrum of the pulmonary pathology that may be encountered in individuals with alpha 1-antitrypsin deficiency.
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PMID:Bronchiectasis and homozygous (P1ZZ) alpha 1-antitrypsin deficiency in a young man. 871 67

The serpin superfamily of serine proteinase inhibitors contains many members but the best-characterized is the plasma protein alpha 1-antitrypsin. its genetic deficiency is associated, in the homozygote, with hepatic damage that may progress to cirrhosis and hepatocellular carcinoma. Low levels of circulating alpha 1-antitrypsin fail to protect the lungs against proteolytic attack and predispose the homozygote to early onset pan-lobular emphysema, bronchiectasis and asthma. The major cause of alpha 1-antitrypsin deficiency, the Z mutation (Glu342Lys), results in the accumulation of protein in the endoplasmic reticulum of the liver. Using a structural approach, we have shown that the hepatic inclusions result from a protein-protein interaction between the reactive centre loop of one molecule and the beta-pleated sheet of a second. This loop-sheet polymerization is now also recognized to be the basis of deficiencies associated with mutations of C1-inhibitor, antithrombin and alpha 1-antichymotrypsin. Our recent solution of a crystal structure of a thermostable mutant of alpha 1-antitrypsin shows the detailed interactions that result in loop-sheet linkage and helps to explain the mechanism of action of this family of proteinase inhibitors.
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PMID:New insights into the structural basis of alpha 1-antitrypsin deficiency. 897 59

Cystic fibrosis (CF) is an autosomal recessive disorder that is characterized by an abnormality of exocrine gland function. Adult patients represent a rapidly growing percentage of the CF population. Pulmonary changes are seen in nearly every case and are the most serious complication of CF. In advanced lung disease, bronchiectasis, emphysematous bullae, and subpleural blebs can frequently develop. Although pulmonary disease is the most common cause of death and morbidity among CF patients, there also can be involvement of other groups, particularly in adults, which show characteristic signs on CT and spiral CT. Pancreatic abnormalities are present in 85-90% of CF patients. The degree of pancreatic involvement varies, ranging form accumulations of mucus in the small ducts to totally plugged ducts, which can cause atrophy of the exocrine glands and progressive fibrosis. Pancreatic dysfunction on CT is demonstrated as fatty replacement and fibrosis of the pancreas. However, there may be scattered foci of pancreatic calcifications that can be detectable on plain radiographs. Hepatobiliary involvement follows the same pattern as pancreatic abnormalities. Bile canaliculi are plugged by mucinous material and when this plugging is of long duration, biliary cirrhosis with diffuse hepatic nodularity may develop. Such severe hepatic involvement is see in only about 2-5% of patients, although minor hepatic alterations, such as diffuse fatty changes, are fairly common. Hepatobiliary involvement is characterized by hepatic nodularity, compatible with cirrhosis, splenomegaly, and ascites. Complete obstruction of the ileum by meconium occurs in approximately 10% of newborns with CF. Intestinal findings on CT include obstruction, although this is more common in children. These CT signs should be evaluated carefully in adult patients since they may be suggestive of CF. Computed tomography offers unique information about organ involvement (other than pulmonary) that can alter diagnosis and patient management.
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PMID:Cystic fibrosis: spectrum of thoracic and abdominal CT findings in the adult patient. 975 98

Helicobacter pylori (H. pylori) is the most common cause of peptic ulcers, and is considered as carcinogenic with respect to gastric cancer and MALT lymphoma. The role of H. pylori in other gastroduodenal diseases like atrophic gastritis and functional dyspepsia has been investigated in hundreds of works, but little is done about what role H. pylori may play in non gastric diseases. Gastro-esophageal reflux disease does not seem to be related to H. pylori but Barrett's esophagus might be. Inflammatory bowel diseases tend to be reverse correlated with H. pylori. In coronary heart disease some studies have shown a connection, others not. Diabetes is not likely to be H. pylori-associated and nor do liver diseases with exception for cirrhosis, where a correlation is possible. Respiratory diseases are little examined but bronchiectasis might have a correlation with H. pylori. A small series of children, who had died in sudden infant death, showed a high rate of H. pylori infection.
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PMID:Non-gastric effects of H. pylori infection: a literature review with respect to non gastric diseases which might be associated with H. pylori infection. 1002 62

Halitosis is a frequent complaint which is estimated to be found in around 50 to 60% of the general population and that carries serious personal and social repercussions. Although the majority of cases are due to oral problems, it is considered that 10-13% of halitosis cases are of extraoral etiology. In these cases the responsibility of the general dental practitioner, who is frequently the first person to examine and treat these patients, is to refer the patient for evaluation to an otorhinolaryngologist in order to rule out the presence of chronic tonsillitis or chronic sinusitis. If the otorhinolaryngologist does not detect alterations concerning his specialty, the digestive system should be explored in order to detect gastric pathology, obstructions or inflammatory gastrointestinal processes, the liver to rule out hepatic insufficiency or cirrhosis, the endocrine system to exclude diagnoses of diabetes or trimethylaminuria, the airways to rule out bronchiectasis or pulmonary abscesses, and the kidney to eliminate possible renal insufficiency. Finally, in the absence of any systemic organic pathology, the possibility of halitosis of psychiatric etiology, which requires the patient's psychological profile to be checked by the corresponding specialist, should be considered.
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PMID:Extraoral etiology of halitosis. 1148 30

A cystic fibrosis (CF) heterozygote incidence higher than in the general population has been repeatedly reported in conditions which include clinical features found in CF, like pancreatitis, disseminated bronchiectasis, and allergic bronchopulmonary aspergillosis. Some cases may be explained by an unidentified compound heterozygosity; others could be manifesting heterozygotes. This study was aimed at detecting the incidence of CF-related clinical features in a population of carriers. A group of 261 obligate heterozygotes (mean age, 44 years) and a control group, composed of 201 individuals negative for a standard mutation panel (mean age, 36 years), were surveyed for possibly CF-related conditions (asthma, bronchiectasis, pneumothorax, allergic bronchopulmonary aspergillosis, sinusitis, nasal polyps, gallstones, liver cirrhosis, diabetes, pancreatitis, bone fractures, plus hypertension). A questionnaire was administered, and the accuracy of the statements was evaluated by phone interviews. There was no difference between heterozygotes and controls, with the exception of hypertension (carriers 28/261, controls 7/201, p = 0.004), and, in males, nasal polyps (carriers 7/126, controls 0/102, p value = 0.0178), and, again, hypertension (carriers 17/126, controls 5/102, p value = 0.0407). To avoid age bias, 126 heterozygotes matched to controls of the same gender and age were separately processed: these two groups showed no significant differences. CF-related clinical manifestations in obligate CFTR mutation heterozygotes are not more represented than in individuals with a low risk of being carriers.
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PMID:A pilot survey of cystic fibrosis clinical manifestations in CFTR mutation heterozygotes. 1178 92

One third of patients with cystic fibrosis are adults. The respiratory disease, which conditions the vital prognosis, consists of bronchiectasis with chronic bronchial infection and bursts of acute infection, leading to respiratory insufficiency. Pseudomonas aeruginosa is the most frequent bacteria in adulthood. Exocrine pancreatic insufficiency is associated in 80% of patients. Some complications, such as diabetes, hepatic cirrhosis or osteoporosis, are more frequent in adults. Treatment is based on chest physiotherapy and antibiotics with intravenous courses when there is a colonisation with P. aeruginosa. Pregnancy can be considered in women when respiratory and nutritional status is acceptable. Men are sterile because of congenital bilateral atresia of vas deferens, but can be proposed medical assistance for procreation.
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PMID:[Cystic fibrosis in adults]. 1266 47

A 34-year-old man was admitted to our hospital because of continuous shortness of breath and abnormal chest shadows. Bronchiectasis had been suspected because of abnormal chest shadows during childhood. However, a chest CT scan obtained on admission did not show any bronchiectatic changes, but marked dilated blood vessels and emphysematous changes in the bilateral lower lobes were seen. A pulmonary angiogram showed normal pulmonary arteries in the arterial phase and diffuse dilated veins in the venous phase. Although he has been suffering also from liver cirrhosis type B with portal hypertension, we could not find any association between the liver cirrhosis and the lung lesions. This is a very rare case in which there is a possibility of congenital or idiopathic dilatation of the pulmonary veins.
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PMID:[A rare case of marked dilatation of the pulmonary veins and emphysematous lesions in both lower lung lobes]. 1476 70


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