Prevalence of α1-antitrypsin phenotypes in patients with IgA nephropathy

L. Szönyi, M. Dobos, B. Vásárhelyi, E. Héninger, T. Vas, J. Nagy, T. Kovács

Research output: Contribution to journalArticle

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Abstract

Background: α1-antitrypsin (AAT) is the main protease inhibitor in the blood. Several different AAT phenotypes exist. The most common variant is the MM phenotype, which is also associated with normal AAT levels. The less common phenotypes with Z and S variants are associated with low AAT levels. AAT deficiency is a risk factor for pulmonary emphysema, liver impairment and some immune-mediated diseases, some of which are also associated with IgA nephropathy (IgAN). In fact, liver impairment resulting from AAT deficiency may directly contribute to renal abnormalities resembling IgAN. Patients and methods: We investigated AAT phenotype and AAT levels in 100 IgAN patients who did not have end-stage liver disease. Fifteen patients in our sample had secondary IgAN. We also tested for the presence of renal deposition of AAT in patients heterozygous for AAT variants as well as in a randomly chosen group of patients with MM phenotype. We checked for any association between AAT phenotype and the progression of IgAN as well as the prevalence of diseases associated with IgAN (i.e. secondary IgAN). Results: Twelve patients in our sample were heterozygous for AAT variants. Phenotypes were MZ in 5 patients, MS in 3, MF in 1, ML in 2 and ME in 1 patient. AAT levels were lower in these 12 patients than in those homozygous for the M variant (1.17 ± 0.46 vs. 1.44 ± 0.34 g/l, p <0.05). We found renal deposition of AAT in 2 heterozygous patients and in 1 of the 12 patients which were randomly chosen. End-stage renal (ESRF) failure developed in 3 of the 12 heterozygous patients and in 6 of the 88 homozygous patients (p = 0.07) during the follow-up. The prevalence of heterozygosity was significantly higher in patients with secondary IgAN than in those with primary IgAN ((5/15 vs. 7/85; p <0.02). Conclusions: AAT phenotype is not associated with the risk of primary IgA nephropathy, but might have an impact on disease outcome as well as on the risk of secondary IgAN.

Original languageEnglish
Pages (from-to)418-422
Number of pages5
JournalClinical Nephrology
Volume62
Issue number6
Publication statusPublished - Dec 2004

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Immunoglobulin A
Phenotype
Kidney
Pulmonary Emphysema
End Stage Liver Disease
Mercaptoethanol
Liver
Immune System Diseases
Protease Inhibitors
Chronic Kidney Failure

Keywords

  • α -antitrypsin level
  • α-antitrypsin deficiency
  • IgA nephropathy

ASJC Scopus subject areas

  • Nephrology

Cite this

Szönyi, L., Dobos, M., Vásárhelyi, B., Héninger, E., Vas, T., Nagy, J., & Kovács, T. (2004). Prevalence of α1-antitrypsin phenotypes in patients with IgA nephropathy. Clinical Nephrology, 62(6), 418-422.

Prevalence of α1-antitrypsin phenotypes in patients with IgA nephropathy. / Szönyi, L.; Dobos, M.; Vásárhelyi, B.; Héninger, E.; Vas, T.; Nagy, J.; Kovács, T.

In: Clinical Nephrology, Vol. 62, No. 6, 12.2004, p. 418-422.

Research output: Contribution to journalArticle

Szönyi, L, Dobos, M, Vásárhelyi, B, Héninger, E, Vas, T, Nagy, J & Kovács, T 2004, 'Prevalence of α1-antitrypsin phenotypes in patients with IgA nephropathy', Clinical Nephrology, vol. 62, no. 6, pp. 418-422.
Szönyi, L. ; Dobos, M. ; Vásárhelyi, B. ; Héninger, E. ; Vas, T. ; Nagy, J. ; Kovács, T. / Prevalence of α1-antitrypsin phenotypes in patients with IgA nephropathy. In: Clinical Nephrology. 2004 ; Vol. 62, No. 6. pp. 418-422.
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abstract = "Background: α1-antitrypsin (AAT) is the main protease inhibitor in the blood. Several different AAT phenotypes exist. The most common variant is the MM phenotype, which is also associated with normal AAT levels. The less common phenotypes with Z and S variants are associated with low AAT levels. AAT deficiency is a risk factor for pulmonary emphysema, liver impairment and some immune-mediated diseases, some of which are also associated with IgA nephropathy (IgAN). In fact, liver impairment resulting from AAT deficiency may directly contribute to renal abnormalities resembling IgAN. Patients and methods: We investigated AAT phenotype and AAT levels in 100 IgAN patients who did not have end-stage liver disease. Fifteen patients in our sample had secondary IgAN. We also tested for the presence of renal deposition of AAT in patients heterozygous for AAT variants as well as in a randomly chosen group of patients with MM phenotype. We checked for any association between AAT phenotype and the progression of IgAN as well as the prevalence of diseases associated with IgAN (i.e. secondary IgAN). Results: Twelve patients in our sample were heterozygous for AAT variants. Phenotypes were MZ in 5 patients, MS in 3, MF in 1, ML in 2 and ME in 1 patient. AAT levels were lower in these 12 patients than in those homozygous for the M variant (1.17 ± 0.46 vs. 1.44 ± 0.34 g/l, p <0.05). We found renal deposition of AAT in 2 heterozygous patients and in 1 of the 12 patients which were randomly chosen. End-stage renal (ESRF) failure developed in 3 of the 12 heterozygous patients and in 6 of the 88 homozygous patients (p = 0.07) during the follow-up. The prevalence of heterozygosity was significantly higher in patients with secondary IgAN than in those with primary IgAN ((5/15 vs. 7/85; p <0.02). Conclusions: AAT phenotype is not associated with the risk of primary IgA nephropathy, but might have an impact on disease outcome as well as on the risk of secondary IgAN.",
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AU - Dobos, M.

AU - Vásárhelyi, B.

AU - Héninger, E.

AU - Vas, T.

AU - Nagy, J.

AU - Kovács, T.

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N2 - Background: α1-antitrypsin (AAT) is the main protease inhibitor in the blood. Several different AAT phenotypes exist. The most common variant is the MM phenotype, which is also associated with normal AAT levels. The less common phenotypes with Z and S variants are associated with low AAT levels. AAT deficiency is a risk factor for pulmonary emphysema, liver impairment and some immune-mediated diseases, some of which are also associated with IgA nephropathy (IgAN). In fact, liver impairment resulting from AAT deficiency may directly contribute to renal abnormalities resembling IgAN. Patients and methods: We investigated AAT phenotype and AAT levels in 100 IgAN patients who did not have end-stage liver disease. Fifteen patients in our sample had secondary IgAN. We also tested for the presence of renal deposition of AAT in patients heterozygous for AAT variants as well as in a randomly chosen group of patients with MM phenotype. We checked for any association between AAT phenotype and the progression of IgAN as well as the prevalence of diseases associated with IgAN (i.e. secondary IgAN). Results: Twelve patients in our sample were heterozygous for AAT variants. Phenotypes were MZ in 5 patients, MS in 3, MF in 1, ML in 2 and ME in 1 patient. AAT levels were lower in these 12 patients than in those homozygous for the M variant (1.17 ± 0.46 vs. 1.44 ± 0.34 g/l, p <0.05). We found renal deposition of AAT in 2 heterozygous patients and in 1 of the 12 patients which were randomly chosen. End-stage renal (ESRF) failure developed in 3 of the 12 heterozygous patients and in 6 of the 88 homozygous patients (p = 0.07) during the follow-up. The prevalence of heterozygosity was significantly higher in patients with secondary IgAN than in those with primary IgAN ((5/15 vs. 7/85; p <0.02). Conclusions: AAT phenotype is not associated with the risk of primary IgA nephropathy, but might have an impact on disease outcome as well as on the risk of secondary IgAN.

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