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- Bernspång, Elisabeth, et al.
(författare)
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CT lung densitometry in young adults with alpha-1-antitrypsin deficiency
- 2011
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Ingår i: Respiratory Medicine. - : Elsevier BV. - 0954-6111 .- 1532-3064. ; 105:1, s. 74-79
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Tidskriftsartikel (refereegranskat)abstract
- Background: Severe (PiZZ) and moderate (PiSZ) alpha-1-antitrypsin (AAT) deficiency predispose to lung emphysema, especially in smokers. We hypothesized that multi-slice computed tomography (CT) might be superior to pulmonary function tests (PFT) to detect lung emphysema in AAT-deficient individuals at the age of 32 years. Methods: A subgroup of PiZZ and PiSZ individuals identified during the Swedish newborn screening programme in 1972-74 underwent multi-slice CT and PFT at the age of 32 years. From the CT scans the percentile density at 15% (PD15) and the relative area below -910 Hounsfield Units (RA(-910) HU) were calculated. The results of PFT and CT were compared between the AAT-deficient individuals and an age-matched control group. Results: Twenty-five PiZZ, 11 PiSZ and 17 PiMM individuals participated in the study. All Pi subgroups had normal lung function. The mean PD15 was 81 (SD 22) g/L in the PiZZ individuals, 96 (SD 35) g/L in the PiSZ individuals and 79 (SD 17) g/L in the PiMM individuals (ns), and the RA-910 were 30 (SD 18)%, 24 (SD 20)%, and 32 (SD 18)%, respectively (ns). For the never-smoker subgroups, in the PiZZ (n = 23), PiSZ (n = 8) and PiMM (n = 12), the mean PD15 were 95 (SD 35) g/L, 81 (SD 22) g/L, and 75 (SD 12) g/L, respectively (ns). PD15 was significantly correlated to CT derived lung size (r = -0.72; p < 0.001). Conclusions: CT densitometry revealed no signs of emphysema and no differences between the AAT-deficient individuals identified by neonatal screening and age-matched control subjects.
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| 2. |
- Bernspång, Elisabeth, et al.
(författare)
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Lung function in 30-year-old alpha-1-antitrypsin-deficient individuals.
- 2009
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Ingår i: Respiratory Medicine. - : Elsevier BV. - 1532-3064 .- 0954-6111. ; 103, s. 861-865
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Alpha-1-antitrypsin (AAT) deficiency increases the risk of emphysema, especially in smokers. In 1972-1974, all 200,000 Swedish new-born infants were screened for AAT deficiency and individuals with severe (PiZZ) and moderate (PiSZ) deficiency have been followed-up regularly. The aim of the present study was to examine their lung function at the age of 30years, comparing them to a group of age-matched control subjects (PiMM) recruited from the general population, and to compare current smokers with never-smokers. METHOD: Static and dynamic spirometry, including TLC, FRC, RV, VC, FEV(1,)K(CO) and D(L,CO), was performed for all participants. All values were expressed as percentages of the expected values. FEV(1)/VC was expressed both as percentage of the expected value and in absolute numbers. RESULTS: Four of 60 PiZZ, none of 19 PiSZ and 9 of 33 PiMM participating individuals were current smokers. All Pi groups had a normal mean FEV(1). The mean (SD) FEV(1)/VC ratio was 75% (7.4) in the PiZZ smokers and 84% (5.5) in the PiZZ never-smokers (p<0.01). The mean (SD) K(CO) was 81 (13) in the PiZZ smokers and 99 (14) in the PiZZ never-smokers (p<0.05). CONCLUSION: AAT-deficient individuals identified by neonatal screening have normal lung function at the age of 30. The PiZZ smokers had changes in lung function that may be signs of early emphysema.
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| 3. |
- Bernspång, Elisabeth, et al.
(författare)
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Respiratory symptoms and lung function in 30-year-old individuals with alpha-1-antitrypsin deficiency.
- 2007
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Ingår i: Respiratory Medicine. - : Elsevier BV. - 1532-3064 .- 0954-6111. ; 101, s. 1971-1976
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: Individuals with severe alpha-1-antitrypsin (AAT) deficiency have a well-known risk of developing emphysema but it is not known at which age the first symptoms occur and lung function declines. The aim of this study was to examine the prevalence of smoking, respiratory symptoms and lung function at the age of 30 in AAT-deficient individuals (PiZ and PiSZ) identified by neonatal screening. Material and methods: One hundred and seven PiZ, 45 PiSZ and 197 control subjects (PiMM) filled in a questionnaire regarding smoking habits and symptoms. Ninety PiZ, 40 PiSZ and 84 control subjects underwent spirometry including FEV1 and FVC. Results: Twenty-one percent of PiZ, 23% of PiSZ and 34% of PiMM subjects had smoked at some time (p < 0.05). Sixty-five percent of PiZ, 55% of PiSZ and 35% of PiMM ever-smokers reported shortness of breath on exertion (p < 0.05 PiZ vs PiMM). The mean FEV1, was 101% predicted (95% CI 98-104) in PiZ, 101% predicted (95% CI 97-106) in PISZ, and 96% predicted (95% 93-98) in PiMM individuals (p < 0.05). There was no difference in mean FEV1 when comparing ever- and neversmokers in the different Pi groups separately. Conclusion: At the age of 30, the AAT-deficient individuals in this cohort report more symptoms than the control subjects. Smoking is less common in the cohort compared to controls. Their lung function is normal.
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| 4. |
- Bernspång, Elisabeth
(författare)
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Severe and moderate alpha-1-antitrypsin deficiency at the age of 30
- 2009
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Alpha-1-antitrypsin (AAT) is a glycoprotein synthesised in the liver. Its main role is to protect lung tissue from destruction by neutrophil elastase. In severe (PiZZ) AAT deficiency, there is an increased risk of emphysema, especially in smokers. The deficiency is caused by the retention and aggregation by polymerization of the AAT molecules in the liver, which increases the risk of neonatal cholestasis in infancy, and cirrhosis and hepatocellular carcinoma in adulthood. To investigate the prevalence of severe and moderate (PiSZ) AAT deficiency and follow its natural course, all 200,000 Swedish new-born children were screened in 1972-74. Among these, 128 individuals with severe and 55 with moderate AAT deficiency were identified. They and a group of controls were invited to a follow-up at the age of 30. The participants answered a questionnaire including questions about occupation, smoking habits and respiratory symptoms. Pulmonary function tests and CT densitometry were performed. Blood samples were obtained to analyse liver enzymes and serum proteins. The AAT-deficient individuals smoked less than the controls but the PiZZ individuals who had smoked had more respiratory symptoms than the other subgroups. The PiZZ current smokers had a lower FEV1/VC ratio and diffusion capacity for carbon monoxide compared to the other subgroups. As a group, the AAT-deficient individuals did not differ in respiratory symptoms, lung function or CT densitometry from the controls. The AAT-deficient individuals had normal levels of liver enzymes but mean ASAT and ALAT were significantly higher than in the control subjects. At the age of 30, individuals with severe (PiZZ) and moderate (PiSZ) AAT deficiency are healthy. However, smokers have more respiratory symptoms and alterations in lung function, which may be early signs of COPD. Compared to healthy controls, the AAT-deficient individuals had higher levels of liver transaminases.
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| 5. |
- Bernspång, Elisabeth, et al.
(författare)
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The liver in 30-year-old individuals with alpha(1)-antitrypsin deficiency.
- 2009
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Ingår i: Scandinavian Journal of Gastroenterology. - : Informa UK Limited. - 1502-7708 .- 0036-5521. ; 44:11, s. 1349-1355
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE. Severe (PiZZ) alpha(1)-antitrypsin (AAT) deficiency is a risk factor for liver disease, i.e. juvenile cirrhosis in infancy, and cirrhosis and hepatoma in adulthood. Little is known about the risk of liver disease in individuals with moderate (PiSZ) AAT deficiency. To investigate the natural course of AAT deficiency, a cohort of PiZZ and PiSZ individuals identified by the Swedish National neonatal screening programme in 1972-74 is followed regularly. The aim of this study was to compare liver function in this cohort with healthy control subjects aged 30 years. MATERIAL AND METHODS. Blood samples were obtained from 89 PiZZ, 40 PiSZ, and 84 control subjects (PiMM), and plasma levels of aspartate aminotransferase (AST), alanine aminotransferase (ALT), and gamma-glutamyl (GT) transpeptidase were analysed. RESULTS. The mean values of all liver enzymes were within the normal range in all Pi subgroups. However, the mean AST was higher in the PiZZ and PiSZ subgroups than in the PiMM subgroup (p < 0.001), and the mean ALT was higher in the PiZZ individuals than in the controls (p < 0.05), while GT did not differ significantly among the Pi subgroups. The PiZZ women taking oral contraceptives had higher mean AST and ALT (p < 0.01) and GT (p < 0.05) than the control women taking oral contraceptives. CONCLUSIONS. At the age of 30 years, PiZZ and PiSZ individuals have normal plasma levels of the transaminases AST and ALT, although they are significantly higher than those in healthy control subjects. Use of oral contraceptives seems to influence liver enzymes in PiZZ women.
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