Improving the Laboratory Diagnosis of M-like Variants Related to Alpha1-Antitrypsin Deficiency
Abstract
:1. Introduction
2. Results
2.1. Mwurzburg
2.2. Mwhitstable
3. Discussion
4. Materials and Methods
4.1. Samples
4.2. Isoelectrophocusing (IEF)
4.3. Sequencing
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Sample | Genotype | AAT (mg/dL) | CRP (mg/dL) | Age at Diagnosis | Smoking Habits (Pack/Year) | Disease |
---|---|---|---|---|---|---|
1 | SMwurzburg | 86 | Not reported | 63 | Current (31) | Healthy |
2 | MMwurzburg | 122.5 | 0.11 | 67 | Not reported | Emphysema |
3 | MMwurzburg | 123 | 0.11 | 67 | Current (47) | Emphysema |
4 | MMwurzburg | 123.2 | 0.34 | 25 | Not reported | Not reported |
5 | MMwurzburg | 124 | 0.32 | 64 | Former (30) | Asthma |
6 | MMwurzburg | 125 | 0.15 | 61 | Former (16) | Bronchiectasis |
7 | MMwurzburg | 125.2 | 0.28 | 27 | Not reported | Not reported |
8 | MMwurzburg | 126 | 0.05 | 23 | Not reported | Not reported |
9 | MMwurzburg | 126 | 0.14 | 68 | Never | Not reported |
10 | MMwurzburg | 131.6 | 0.06 | 77 | Not reported | Not reported |
11 | MMwurzburg | 146.3 | 0.62 | 74 | Not reported | Healthy |
12 | MMwurzburg | 177.2 | 0.2 | 55 | Never | Asthma, bronchiectasis, dyspnea—hepatitis |
13 | MMwurzburg | 180.5 | 0.11 | 45 | Not reported | Not reported |
14 | MM | 182 | 0.25 | 78 | Never | Bronchiectasis |
15 | MM | 184 | Not reported | 48 | Not reported | Healthy |
16 | MMwurzburg | 197.4 | 0.05 | 55 | Not reported | Emphysema |
17 | MMwurzburg | 206 | 3.27 | 78 | Not reported | Not reported |
18 | MMwurzburg | 315.1 | 0.09 | 64 | Former (30) | Bronchitis |
Sample | Genotype | AAT (mg/dL) | CRP (mg/dL) | Age at Diagnosis | Smoking Habits (Pack/Year) | Disease |
---|---|---|---|---|---|---|
1 | ZMwhitstable | 48 | 0.1 | 64 | Never | Not reported |
2 | M2Mwhitstable | 55.7 | 0.1 | 60 | Not reported | Not reported |
3 | M2Mwhitstable | 56 | 0.1 | 70 | Never | Emphysema |
4 | ZMwhitstable | 56.2 | 0.11 | 58 | Never | Hepatitis |
5 | ZMwhitstable | 59.9 | 0.03 | 25 | Never | Healthy |
6 | ZMwhitstable | 60.6 | 0.01 | 35 | Never | Asthma |
7 | ZMwhitstable | 62 | 1.4 | 85 | Former (18) | Not reported |
8 | M2Mwhitstable | 66 | 0.1 | 55 | Former (10) | Bronchitis, |
9 | M1Mwhitstable | 66.3 | 0.28 | 76 | Former (6.3) | Asthma, bronchitis, bronchiectasis |
10 | M1Mwhitstable | 68.4 | 0.6 | 73 | Former (18) | Bronchitis |
11 | M1Mwhitstable | 70.7 | 0.2 | 64 | Never | Dyspnea-hepatitis |
12 | M2Mwhitstable | 72.4 | 0.2 | 46 | Never | Emphysema, pneumothorax |
13 | M1Mwhitstable | 74 | Not reported | Not reported | Not reported | Healthy |
14 | M1Mwithstable | 77.1 | 0.1 | 38 | Not reported | Chronic bronchitis, allergic asthma |
15 | SMwhitstable | 78 | 0 | 15 | Never | Not reported |
16 | M1Mwhitstable | 78.3 | 0.06 | 55 | Former (38) | Asthma |
17 | M1Mwithstable | 82.1 | 0.01 | 47 | Not reported | Not reported |
18 | M1Mwhitstable | 84.5 | 0.23 | 53 | Never | Asthma |
19 | M2Mwhitstable | 86 | 0.1 | 10 months | Never | Bronchitis |
20 | M1Mwhitstable | 87.5 | 0.1 | 24 | Never | Bronchiectasis |
21 | M3Mwhitstable | 88 | 0.1 | 67 | Current (35) | Bronchiectasis, dyspnea, emphysema, bronchitis-hepatitis |
22 | MMwhitstable | 89.3 | 0.4 | 61 | Current (45) | Dyspnea |
23 | M3Mwhitstable | 89.8 | 0.13 | 71 | Former | Asthma |
24 | M1Mwhitstable | 89.9 | 0.004 | 64 | Current (31) | Emphysema-hepatitis |
25 | M1Mwhitstable | 90 | 0.13 | 47 | Never | Asthma, emphysema |
26 | M1Mwhitstable | 90.7 | 0.1 | 66 | Never | Bronchiectasis |
27 | M1Mwhitstable | 91 | Not reported | 62 | Former (40) | Emphysema |
28 | M2Mwhitstable | 91.7 | 0.01 | 54 | Former (Not reported) | Bronchitis |
29 | M1Mwhitstable | 92.9 | 0 | 37 | Not reported | Not reported |
30 | M1Mwhitstable | 93.3 | 0.1 | 73 | Not reported | Emphysema, pulmonary fibrosis |
31 | M3Mwhitstable | 93.7 | 0.03 | 3 | Never | Healthy |
32 | M2Mwhitstable | 94.6 | 0.12 | 50 | Current (12) | Emphysema |
33 | M2Mwhitstable | 96 | 0.2 | 55 | Current (40) | Emphysema |
34 | MMwhitstable | 99.6 | 0.13 | 27 | Current (7.4) | Healthy |
35 | M1Mwithstable | 103.9 | 0.83 | 72 | Not reported | COPD, emphysema |
36 | M3Mwhitstable | 104 | 1 | 64 | Former (Not reported) | Emphysema |
37 | M1Mwhitstable | 111.4 | 0.9 | 72 | Former (0.25) | Asthma, bronchiectasis, dyspnea |
38 | M2Mwhitstable | 125 | 0.05 | 56 | Current (45) | Bronchitis, emphysema, dyspnea |
39 | MMwhitstable | 128.1 | 0.12 | 31 | Current (14) | Healthy |
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Barzon, V.; Ottaviani, S.; Balderacchi, A.M.; Corino, A.; Piloni, D.; Accordino, G.; Coretti, M.; Mariani, F.; Corsico, A.G.; Ferrarotti, I. Improving the Laboratory Diagnosis of M-like Variants Related to Alpha1-Antitrypsin Deficiency. Int. J. Mol. Sci. 2022, 23, 9859. https://doi.org/10.3390/ijms23179859
Barzon V, Ottaviani S, Balderacchi AM, Corino A, Piloni D, Accordino G, Coretti M, Mariani F, Corsico AG, Ferrarotti I. Improving the Laboratory Diagnosis of M-like Variants Related to Alpha1-Antitrypsin Deficiency. International Journal of Molecular Sciences. 2022; 23(17):9859. https://doi.org/10.3390/ijms23179859
Chicago/Turabian StyleBarzon, Valentina, Stefania Ottaviani, Alice Maria Balderacchi, Alessandra Corino, Davide Piloni, Giulia Accordino, Manuela Coretti, Francesca Mariani, Angelo Guido Corsico, and Ilaria Ferrarotti. 2022. "Improving the Laboratory Diagnosis of M-like Variants Related to Alpha1-Antitrypsin Deficiency" International Journal of Molecular Sciences 23, no. 17: 9859. https://doi.org/10.3390/ijms23179859