Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0034067 (emphysema)
 11,506 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An association of alpha 1-antitrypsin deficiency with glomerulonephritis is rare and has so far been observed only in children or young adults. We report a 63-year-old man with severe alpha 1-antitrypsin deficiency associated with pulmonary emphysema, cirrhosis of the liver, and mesangioproliferative glomerulonephritis with nephrotic syndrome. Following initial presentation with nephropathy, further work-up revealed alpha 1-antitrypsin deficiency of proteinase inhibitor Z. In the absence of glomerular alpha 1-antitrypsin deposits the relationship between renal disease and alpha 1-antitrypsin deficiency remains unclear. alpha 1-Antitrypsin deficiency should be considered in adults with abnormal renal function and chronic liver disease.
 ...
PMID:Glomerulonephritis as late manifestation of severe alpha 1-antitrypsin deficiency. 808 78

The authors present a case report of bleeding from the small dissection of descending aorta. Patient, 71 year old woman, with severe comorbidities (nephrotic syndrome based on membraneous glomerulonephritis, diabetes mellitus, lung emphysema, hepatopathy, polyneuropathy and others). One month after last stay in hospital chemotherapy et corticotherapy. In while on heparin during hospitalization at nephrologic department, patient developed right side haemothorax and haemomediastinum. An urgent transfer to surgical department with cardiopulmonary resuscitation was performed. The suspection of aneurysm on CT angioscan was non confirmed. The damage of oesophagus due to previous endoscopy (for chest pain) was non confirmed, too. During surgery masive sanquine effusion of mediastinum and right side haemothorax was found. The drainage and redrainage of the chest was performed. The cause of bleeding was not found. Critically ill patient had died and on autopsy a small dissection of thoracic aorta was found as a cause of bleeding. The problems of diagnosis and therapy are discussed. (Fig. 2, Ref. 7.)
 ...
PMID:Non-recognized cause of intrathoracic bleeding. 1608 Mar 65

The role of severe a1-antitrypsin (A1AT) deficiency in the predisposition of early-onset pulmonary emphysema and juvenile hepatic cirrhosis is well-established. Associated glomerulonephritis is unusual although it is well-recognized in children and young adults with the severe phenotype. We report the first adult case of A1AT deficiency presenting with nephrotic syndrome secondary to IgA nephropathy and explore the direct role of A1AT deposits in the pathogenesis of the renal involvement.
 ...
PMID:alpha1-antitrypsin (A1AT) deficiency presenting with IgA nephropathy and nephrotic syndrome: is renal involvement caused by A1AT deposition? 1879 32