Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0010200 (cough)
 23,843 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Patients with alpha 1-antitrypsin (AAT) deficiency, like those with asthma and chronic obstructive pulmonary disease, usually present with dyspnea, wheeze, and cough. The similarity in presentation and unfamiliarity among clinicians with AAT deficiency account for much of the delay in diagnosis. Normally, AAT inhibits serine proteases, which cause alveolar destruction, and alters the function of cells that release mediators of inflammation. Diagnostic findings suggesting deficiency include irreversible airflow obstruction, a decreased diffusing capacity of the lung for carbon monoxide, bibasilar bullous disease on chest films, and a low serum level of AAT. Asthma is usually diagnosed on the basis of clinical findings and response to inhaled beta agonists. The presence of inflammation is believed to be necessary for development of clinically significant asthma. Inflammation added to a deficiency of antiprotease inhibitor activity significantly worsens bronchial hyperreactivity. This is only one mechanism by which AAT deficiency may potentiate allergic and bronchospastic responses. The prevalence of bronchial asthma in patients with AAT deficiency is unknown. Studies by the National Institutes of Health regarding the natural history of AAT deficiency and its response to therapy are under way. Perhaps more will be discovered about the relationship between the disorder and bronchial asthma.
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PMID:Alpha 1-antitrypsin deficiency and asthma. The continuing search for the relationship. 912 9

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

Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that manifests as pulmonary emphysema, liver cirrhosis and, rarely, as the skin disease panniculitis, and is characterized by low serum levels of AAT, the main protease inhibitor (PI) in human serum. The prevalence in Western Europe and in the USA is estimated at approximately 1 in 2,500 and 1 : 5,000 newborns, and is highly dependent on the Scandinavian descent within the population. The most common deficiency alleles in North Europe are PI Z and PI S, and the majority of individuals with severe AATD are PI type ZZ. The clinical manifestations may widely vary between patients, ranging from asymptomatic in some to fatal liver or lung disease in others. Type ZZ and SZ AATD are risk factors for the development of respiratory symptoms (dyspnoea, coughing), early onset emphysema, and airflow obstruction early in adult life. Environmental factors such as cigarette smoking, and dust exposure are additional risk factors and have been linked to an accelerated progression of this condition. Type ZZ AATD may also lead to the development of acute or chronic liver disease in childhood or adulthood: prolonged jaundice after birth with conjugated hyperbilirubinemia and abnormal liver enzymes are characteristic clinical signs. Cirrhotic liver failure may occur around age 50. In very rare cases, necrotizing panniculitis and secondary vasculitis may occur. AATD is caused by mutations in the SERPINA1 gene encoding AAT, and is inherited as an autosomal recessive trait. The diagnosis can be established by detection of low serum levels of AAT and isoelectric focusing. Differential diagnoses should exclude bleeding disorders or jaundice, viral infection, hemochromatosis, Wilson's disease and autoimmune hepatitis. For treatment of lung disease, intravenous alpha-1-antitrypsin augmentation therapy, annual flu vaccination and a pneumococcal vaccine every 5 years are recommended. Relief of breathlessness may be obtained with long-acting bronchodilators and inhaled corticosteroids. The end-stage liver and lung disease can be treated by organ transplantation. In AATD patients with cirrhosis, prognosis is generally grave.
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PMID:Hereditary alpha-1-antitrypsin deficiency and its clinical consequences. 1856 11

Asthma and male infertility are common diseases that can occur in the same patient. In some cases they could have patho-physiological changes common to both diseases. Our patient was seen as a result of having an irritating cough with wheezing, mainly at night, for more than a month. Asthma was diagnosed, and he responded favourably to the treatment given. Upon being informed that he had been examined for infertility for 5 years, alpha-1 antitrypsin (AAT) levels were requested. These confirmed that he had a phenotype SZ AAT deficiency. These findings, together with some evidence published recently, suggested that there is a need to rule out AAT deficiency in males with asthma and infertility.
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PMID:Young man with asthma and infertility. 2044 Sep 23

Although less well appreciated than pulmonary emphysema, inflammation of the airways is an early and important finding in alpha-1 antitrypsin deficiency (AATD). The spectrum of clinical presentations of airways disease includes cough and wheezing that is frequently diagnosed as asthma. Study of the airways inflammation in sputum or the proximal airways usually reveals neutrophilic inflammation. Although there is significant phenotypic variation, tubular airways dilation consistent with bronchiectasis is a common finding in areas of panlobular emphysema in severely deficient AATD. Other phenotypes of varicose and saccular bronchiectasis have been described. Since AAT may impact the course of bacterial, mycobacterial and viral clearance, future studies of the airway microbiota will inform whether airway pathogens are responsible for some pulmonary AATD phenotypes. Whether airways disease improves with AAT augmentation therapy remains unknown.
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PMID:Airway disease in alpha-1 antitrypsin deficiency. 2352 21

Alpha-1-antitrypsin deficiency (AATd) is a hereditary disease, mainly characterized by early onset and the lower lobes' predominant emphysema. Bronchiectasis is characterized by dilatation of the bronchial wall and a clinical syndrome whose features are a cough, sputum production and frequent respiratory exacerbations. In the literature, there are many papers concerning these two clinical entities, but there is still a lot of debate about a possible association between them, in particular about the frequency of their association and causal links. The aim of this short communication is to show the literature reports about the association between AATd and bronchiectasis to establish the state of the art and possible future developments in this research field.
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PMID:Alpha-1-Antitrypsin Deficiency and Bronchiectasis: A Concomitance or a Real Association? 3223 24