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The Diagnostic Value of Alpha-1-Antitrypsin Phenotype in Patients with Granulomatosis with Polyangiitis.

Pervakova MY, Emanuel VL, Titova ON, Lapin SV, Mazurov VI, Belyaeva IB, Chudinov AL, Blinova TV, Surkova EA - Int J Rheumatol (2016)

Bottom Line: Abnormal A1AT variants were found in 18.4% (7/38) of cases: 1 ZZ, 4 MZ, 2 MF, and only 1 MZ in control group (2%).We found that patients with abnormal A1AT phenotypes had significantly higher vasculitis activity (BVAS) as well as anti-PR3 antibodies concentration.We conclude that A1AT deficiency should be considered in all patients with GPA.

View Article: PubMed Central - PubMed

Affiliation: First Pavlov State Medical University of St. Petersburg, Saint Petersburg 197022, Russia.

ABSTRACT
The deficiency of alpha-1 protease inhibitor, or alpha-1-antitrypsin (A1AT), predisposes to chronic lung diseases and extrapulmonary pathology. Besides classical manifestations, such as pulmonary emphysema and liver disease, alpha-1-antitrypsin deficiency (A1ATD) is also known to be associated with granulomatosis with polyangiitis (GPA or Wegener's granulomatosis). The aim of our study was to evaluate the frequency of allelic isoforms of A1AT and their clinical significance among GPA patients. Detailed clinical information, including Birmingham Vasculitis Activity Score (BVAS), incidence of lung involvement, anti-proteinase 3 (PR3) antibodies concentrations, and other laboratory data were collected in 38 GPA patients. We also studied serum samples obtained from 46 healthy donors. In all collected samples A1AT phenotyping by isoelectrofocusing (IEF) and turbidimetric A1AT measurement were performed. Abnormal A1AT variants were found in 18.4% (7/38) of cases: 1 ZZ, 4 MZ, 2 MF, and only 1 MZ in control group (2%). The mean A1AT concentration in samples with atypical A1AT phenotypes was significantly lower (P = 0.0038) than in normal A1AT phenotype. We found that patients with abnormal A1AT phenotypes had significantly higher vasculitis activity (BVAS) as well as anti-PR3 antibodies concentration. We conclude that A1AT deficiency should be considered in all patients with GPA.

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Related in: MedlinePlus

The results of quantitative A1AT measurement in serum samples of GPA patients with normal and pathological A1AT phenotypes; ∗∗P < 0.01. Note: A1AT reference values: 900–2000 mg/L.
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fig2: The results of quantitative A1AT measurement in serum samples of GPA patients with normal and pathological A1AT phenotypes; ∗∗P < 0.01. Note: A1AT reference values: 900–2000 mg/L.

Mentions: To find out clinical significance of pathogenic A1AT allelic forms, we analyzed GPA patients depending on A1AT phenotype. Mean A1AT concentrations in groups with normal (N = 31) and pathological (N = 7) A1AT phenotypes were 1840 mg/L ± 127.2 and 970.0 mg/L ± 167.6, respectively (P = 0.0038, unpaired t-test). A1AT concentrations in both groups are presented in Figure 2.


The Diagnostic Value of Alpha-1-Antitrypsin Phenotype in Patients with Granulomatosis with Polyangiitis.

Pervakova MY, Emanuel VL, Titova ON, Lapin SV, Mazurov VI, Belyaeva IB, Chudinov AL, Blinova TV, Surkova EA - Int J Rheumatol (2016)

The results of quantitative A1AT measurement in serum samples of GPA patients with normal and pathological A1AT phenotypes; ∗∗P < 0.01. Note: A1AT reference values: 900–2000 mg/L.
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4835640&req=5

fig2: The results of quantitative A1AT measurement in serum samples of GPA patients with normal and pathological A1AT phenotypes; ∗∗P < 0.01. Note: A1AT reference values: 900–2000 mg/L.
Mentions: To find out clinical significance of pathogenic A1AT allelic forms, we analyzed GPA patients depending on A1AT phenotype. Mean A1AT concentrations in groups with normal (N = 31) and pathological (N = 7) A1AT phenotypes were 1840 mg/L ± 127.2 and 970.0 mg/L ± 167.6, respectively (P = 0.0038, unpaired t-test). A1AT concentrations in both groups are presented in Figure 2.

Bottom Line: Abnormal A1AT variants were found in 18.4% (7/38) of cases: 1 ZZ, 4 MZ, 2 MF, and only 1 MZ in control group (2%).We found that patients with abnormal A1AT phenotypes had significantly higher vasculitis activity (BVAS) as well as anti-PR3 antibodies concentration.We conclude that A1AT deficiency should be considered in all patients with GPA.

View Article: PubMed Central - PubMed

Affiliation: First Pavlov State Medical University of St. Petersburg, Saint Petersburg 197022, Russia.

ABSTRACT
The deficiency of alpha-1 protease inhibitor, or alpha-1-antitrypsin (A1AT), predisposes to chronic lung diseases and extrapulmonary pathology. Besides classical manifestations, such as pulmonary emphysema and liver disease, alpha-1-antitrypsin deficiency (A1ATD) is also known to be associated with granulomatosis with polyangiitis (GPA or Wegener's granulomatosis). The aim of our study was to evaluate the frequency of allelic isoforms of A1AT and their clinical significance among GPA patients. Detailed clinical information, including Birmingham Vasculitis Activity Score (BVAS), incidence of lung involvement, anti-proteinase 3 (PR3) antibodies concentrations, and other laboratory data were collected in 38 GPA patients. We also studied serum samples obtained from 46 healthy donors. In all collected samples A1AT phenotyping by isoelectrofocusing (IEF) and turbidimetric A1AT measurement were performed. Abnormal A1AT variants were found in 18.4% (7/38) of cases: 1 ZZ, 4 MZ, 2 MF, and only 1 MZ in control group (2%). The mean A1AT concentration in samples with atypical A1AT phenotypes was significantly lower (P = 0.0038) than in normal A1AT phenotype. We found that patients with abnormal A1AT phenotypes had significantly higher vasculitis activity (BVAS) as well as anti-PR3 antibodies concentration. We conclude that A1AT deficiency should be considered in all patients with GPA.

No MeSH data available.


Related in: MedlinePlus