1/55. Wegener's granulomatosis and alpha1-antitrypsin-deficiency emphysema: proteinase-related diseases.Wegener's granulomatosis (WG) and alpha1-antitrypsin (alpha1-AT)-deficiency emphysema are both uncommon disorders. A relationship may exist between these diseases involving the proteinase and antiproteinase balance in the lung. A case is presented of WG and alpha1-AT-deficiency emphysema occurring in the same patient. Previous studies concerning the correlation between abnormal alpha1-AT alleles and WG are discussed. Potential mechanisms for the relationship and recommendations for screening are given.- - - - - - - - - - ranking = 1keywords = antitrypsin, alpha, deficiency (Clic here for more details about this article) |
2/55. Severe alpha1-antitrypsin deficiency and pregnancy.This case study describes a successful pregnancy in a 27-yr-old patient with severe emphysema, secondary to alpha1-antitrypsin deficiency, genotype PiZZ. Despite significant respiratory compromise, more severe than previously reported, no complications ensued. Maternal pulmonary function did not deteriorate significantly until the 32nd week of pregnancy, with an elective Caesarean section being performed during the 37th week. This experience suggests that even severe maternal airflow obstruction is, in itself, not an absolute contra-indication to pregnancy. Pre-pregnancy multidisciplinary counselling is likely to be helpful in these patients, including frank discussion on the risks of pregnancy, the prospects of successful completion and the mother's future prognosis in relation to caring for the child.- - - - - - - - - - ranking = 5.9951839862664keywords = antitrypsin deficiency, antitrypsin, alpha, deficiency (Clic here for more details about this article) |
3/55. Massive pulmonary hemorrhage due to cytomegalovirus infection in a Japanese patient with alpha-1-antitrypsin-deficient emphysema.Although alpha(1)-antitrypsin (AAT) deficiency is one of the most common hereditary diseases and a recognized cause of emphysema in Caucasians, variants of this deficiency are extremely rare among Orientals. We present here a Japanese emphysema patient with the AAT deficiency variant originally identified as S(iiyama). After an 8-year follow-up period, the patient suffered from repeated pulmonary pseudomonas aeruginosa infection for 4 years. He died suddenly of massive pulmonary hemorrhage. The pathologic examination revealed a necrotic hematoma in the right S10 lobe, which exhibited pneumonia due to cytomegalovirus (CMV) infection. Pulmonary hemorrhage due to CMV can occur and be fatal in patients with emphysema and AAT deficiency.- - - - - - - - - - ranking = 0.99887315543061keywords = antitrypsin, alpha, deficiency (Clic here for more details about this article) |
4/55. Redo lung volume reduction surgery in a patient with alpha1-antitrypsin deficiency.lung volume reduction surgery is a palliative procedure that improves dyspnea and pulmonary function in selected patients with advanced emphysema. Postoperative benefit is sustained for an individual period and depends on the emphysema morphology, the surgical technique, and other not yet well-defined factors. The question whether lung volume reduction surgery can be performed a second time on the same thoracic cavity is often raised but experience in this regard is lacking. We describe a patient who has undergone a successful redo operation 2 years after the initial lung volume reduction surgery.- - - - - - - - - - ranking = 4.7961471890131keywords = antitrypsin deficiency, antitrypsin, alpha, deficiency (Clic here for more details about this article) |
5/55. Alpha-1-antitrypsin deficiency in a Southland family.After diagnosis of an alpha-1-antitrypsin deficiency in a patient with emphysema, three complete generations of his family were screened for the defect. Half of the 42 subjects had a defective phenotype (18 were MZ, two were ZZ, and one SZ). Of this group, five had other avoidable risk factors predisposing to emphysema, and a further 10 were children. The four oldest subjects had radiological evidence of emphysema. patients at risk were advised to stop smoking and avoid occupational exposure to lung irritants.- - - - - - - - - - ranking = 5.9942223858259keywords = antitrypsin deficiency, antitrypsin, alpha, deficiency (Clic here for more details about this article) |
6/55. Alpha1-antitrypsin deficiency and pancreatic fibrosis.A 39-year-old woman with homozygous ZZ alpha1-antitrypsin deficiency was found to have pancreatic fibrosis in addition to the recognized pulmonary and hepatic abnormalities. Pancreatic exocrine function was normal but endocrine studies showed glucose intolerance. Pancreatic fibrosis may be another manifestation of alpha1-antitrypsin deficiency.- - - - - - - - - - ranking = 7.1932591830792keywords = antitrypsin deficiency, antitrypsin, alpha, deficiency (Clic here for more details about this article) |
7/55. Intermediate alpha1-antitrypsin deficiency resulting from a null gene (M-phenotype).The presence of a null gene for alpha1-antitrypsin was detected in a family study by the inheritance of intermediate antitrypsin deficiency in association with a normal (PiM) phenotypic pattern. The proband, a 42-year-old man (M-phenotype), was a cigarette smoker and had physiologic evidence of pulmonary emphysema. Three female members of the family were receiving estrogenic medication but had deficient values for serum trypsin inhibitory capacity nevertheless, indicating an unresponsive gene. The mean serum trypsin inhibitory capacity for those with an M-phenotype was significantly lower than that found with an MZ phenotype, presumably due to the total noncontribution to serum antitrypsin activity by the null gene. A quantitative measurement of antitrypsin activity or concentration is necessary in an antitrypsin screening program, since phenotyping procedures alone cannot reveal the null gene.- - - - - - - - - - ranking = 6.7926718793879keywords = antitrypsin deficiency, antitrypsin, alpha, deficiency (Clic here for more details about this article) |
8/55. Pulmonary giant bulla in Wegener's granulomatosis.The association of lung emphysema with severe systemic antineutrophil cytoplasm antibodies (ANCA)-positive vasculitis, such as Wegener's granulomatosis is unusual since only four cases have been described previously. We report the first case of a 30 year-old smoker man presenting with biopsy-proven Wegener's granulomatosis, who developed a bullous emphysema during severe active lung vasculitis, in association with positive ANCA disclosing an anti-myeloperoxydase pattern. alpha 1-antitrypsin deficiency, a known risk factor of lung emphysema recently found to be associated with anti-proteinase 3-positive vasculitis, was not present in this patient. Cigarette smoking, in association with severe lung vasculitis, might have contributed to the development of this emphysematous lesion.- - - - - - - - - - ranking = 1.1987963971432keywords = antitrypsin deficiency, antitrypsin, deficiency (Clic here for more details about this article) |
9/55. Eight years of unexplained headaches (why did the diagnosis take so long?).The patient had chronic incapacitating headaches for a period of eight years. Neurologic tests ruling out organic causes such as tumors and analysis of diet, allergies, stress levels, and chronic infections left the patient and physicians without an explanation. The headaches did not fit the patterns of common or classic migraines. The patient's energy level had significantly decreased during this same time period, and she had frequently become short of breath. diagnosis of underlying pathology occurred when efforts were focused on explaining respiratory conditions. The patient had an oxygen saturation of 77% and a pulse of 98, following a brief walk around the building. Further testing by a pulmonary specialist confirmed diagnosis of emphysema secondary to a deficiency of Alpha-1 Antitrypsin (AAT). Background materials supporting this case history include: a model for AAT function, genetics of AAT deficiency, pathophysiology of both liver and pulmonary diseases, and a summary of treatment options and prognosis for AAT deficient patients.- - - - - - - - - - ranking = 0.00040564423906579keywords = deficiency (Clic here for more details about this article) |
10/55. Congenital lobar emphysema: Like father, like son.Congenital lobar emphysema (CLE) is an uncommon cause of progressive respiratory distress that typically presents in the first few days of life. There has been a previous report of CLE in a mother and daughter. The authors describe 2 cases involving the right upper and middle lobes in a father and son secondary to relative deficiency of the bronchial cartilage. This provides additional evidence for inherited factors in the etiology of CLE.- - - - - - - - - - ranking = 0.00020282211953289keywords = deficiency (Clic here for more details about this article) |
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