| alpha-1 antitrypsin deficiency | <chest medicine> Deficiency of the protease inhibitor alpha-1 antitrypsin, leads primarily to degradation of elastin of the alveolar walls, as well as other structural proteins of a variety of tissues. The lack of this protein leads to damage of various organs, but mainly to the lung and liver. symptoms may become apparent at a very early age or in adulthood, manifesting either as shortness of breath or liver related symptoms (jaundice, fatigue, fluid in the abdomen, mental changes, or gastrointestinal bleeding). There are several options for treatment of the lung disease, including replacement of the missing protein. Treatment of the liver disease is a well-timed liver transplant (12 Dec 1998) |
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| alpha-antitrypsin deficiency | <enzyme> A specific enzyme (alpha 1 antitrypsinase) that when absent genetically can result in panacinar emphysema (lung disease) and liver disease. There is no specific treatment for this condition other than supportive care for the liver and lung complications. Medications such as alpha-1proteinase inhibitor is given regularly to these patients. Incidence: approximately 1 in 10,000. (02 Jan 1998) |
| deficiency, alpha-1 antitrypsin | An inherited disease with little or no production of an important protein, alpha-1 antitrypsin. The lack of this protein leads to damage of various organs, mainly the lung and liver. The disease may become apparent at a very early age or in adulthood, as shortness of breath or liver-related symptoms (jaundice, fatigue, fluid in the abdomen, mental changes, or gastrointestinal bleeding). There are several options for treatment of the lung disease, including replacement of the missing protein. Treatment of the liver disease is a well-timed liver transplant (12 Dec 1998) |
| antitrypsin deficiency | Deficiency of a1-antitrypsin, a glycoprotein of the postalbumin region of human serum. Many forms are known which may be moderate (40 to 60% of normal activity) or severe (less than 10% of normal), all autosomal dominant; the severe form is often associated with familial emphysema or hepatic cirrhosis. (05 Mar 2000) |
| alpha-1 antitrypsin | <chemical> Plasma glycoprotein member of the serpin superfamily which inhibits trypsin, neutrophil elastase, and other proteolytic enzymes. Commonly referred to as alpha 1-proteinase inhibitor (a1pi), it exists in over 30 different biochemical variant forms known collectively as the pi (protease inhibitor) system. Hereditary deficiency is associated with pulmonary emphysema. See: alpha-1 antitrypsin deficiency Pharmacological action: serine proteinase inhibitors, trypsin inhibitors. (12 Dec 1998) |
| panniculitis | <pathology> An inflammatory reaction of the subcutaneous fat, which may involve the connective tissue septa between the fat lobes, the septa lobules and vessels or the fat lobules, characterised by the development of single or multiple cutaneous nodules. (18 Nov 1997) |
| panniculitis, lupus erythematosus | A type of lupus erythematosus characterised by deep dermal or subcutaneous nodules, most often on the head, face, or upper arms. It is generally chronic and occurs most often in women between the ages of 20 and 45. (12 Dec 1998) |
| panniculitis, nodular nonsuppurative | A form of panniculitis characterised by recurrent episodes of fever accompanied by the eruption of single or multiple erythematous subcutaneous nodules on the lower extremities. They normally resolve, but tend to leave depressions in the skin. The condition is most often seen in women, alone or in association with other disorders. (12 Dec 1998) |
| panniculitis, peritoneal | Condition of the peritoneum, most commonly of the mesentery, but also of the omentum, characterised by tissue thickening, alteration of fat cells, infiltration of lipid-laden macrophages, and fibrosis. (12 Dec 1998) |
| poststeroid panniculitis | Subcutaneous nodules developing in children within a month after withdrawal of corticosteroids given to treat the nephrotic syndrome or rheumatic fever; microscopically identical to subcutaneous fat necrosis of the newborn, the condition resolves spontaneously or with steroid readministration. Relapsing febrile nodular nonsuppurative panniculitis, nodular fat necrosis of a variety of possible causes. Synonym: Christian's disease, nodular nonsuppurative panniculitis, Weber-Christian disease. Subacute migratory panniculitis, non-scarring plaques of changing configuration on the lateral aspect of one or both legs, of many months duration. Synonym: erythema nodosum migrans. (05 Mar 2000) |
| nodular nonsuppurative panniculitis | relapsing febrile nodular nonsuppurative panniculitis |
| a1-antitrypsin | A glycoprotein that is the major protease inhibitor of human serum, is synthesised in the liver, and is genetically polymorphic due to the presence of over 20 alleles; individuals appropriately homozygous are deficient in a1-trypsin and are predisposed to pulmonary emphysema and juvenile hepatic cirrhosis because of alterations in the amino acid and sialic acid components of the glycoprotein. A1-Antitrypsin also inhibits thrombin. Synonym: a1-trypsin inhibitor, human a1-proteinase inhibitor. (05 Mar 2000) |
| antitrypsin | <protein> This is a glycoprotein produced in the liver which is the major antiprotease in the blood, serving mainly to inhibit leukocyte elastase. It is a single-chain molecule, has 394 amino acids and a molecular weight of 51,000. Hereditary antitrypsin deficiency is one of the most common genetic disorders among males of European descent. Alpha-1-antitrypsin deficiency results in leukocyte elastase building up and breaking down the lining of the lung, which results in a severe form of emphysema (oxidizing agents in cigarette smoke are also known to inactivate antitrypsin, thus causing the high rates of emphysema among long-term smokers). Because over 20,000 people are affected by this deficiency, large amounts of this antiprotease are needed. To meet the demand, researchers are genetically engineering sheep that produce the antiprotease in their milk. (13 Jan 1998) |
| alpha-1-proteinase deficiency | Absence of a serum proteinase inhibitor that may cause nodular non-suppurative panniculitis. (05 Mar 2000) |
| alpha, alpha-phosphotrehalase | <enzyme> Forms glucose plus glucose-6-phosphate Registry number: EC 3.2.1.93 Synonym: trehalose-6-phosphate hydrolase, phospho-alpha(1,1)glucosidase, trea gene product, trec gene product (26 Jun 1999) |