C-antineutrophil cytoplasmic antibody positivity in vasculitis patients is associated with the Z allele of alpha-1-antitrypsin, and P-antineutrophil cytoplasmic antibody positivity with the S allele

1996 ◽  
Vol 11 (3) ◽  
pp. 438-443 ◽  
Author(s):  
M. E. Griffith ◽  
J. U. Lovegrove ◽  
G. Gaskin ◽  
D. B. Whitehouse ◽  
C. D. Pusey
Keyword(s):  
Antineutrophil Cytoplasmic Antibody ◽  
Antibody Positivity ◽  
Alpha 1 Antitrypsin ◽  
S Allele

Clinical Effect of Alpha-1 Antitrypsin Deficiency in Antineutrophil Cytoplasmic Antibody–associated Vasculitis: Results from a French Retrospective Monocentric Cohort

2019 ◽  
Vol 46 (11) ◽  
pp. 1502-1508 ◽  
Author(s):  
Samuel Deshayes ◽  
Nicolas Martin Silva ◽  
Frédérique Grandhomme ◽  
Kathy Khoy ◽  
Delphine Mariotte ◽  
...  
Keyword(s):  
Clinical Effect ◽  
Survival Rates ◽  
Antineutrophil Cytoplasmic Antibody ◽  
University Hospital ◽  
Free Survival ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin ◽  
S Allele ◽  
Subtype A

Objective.Deficiency in alpha-1 antitrypsin (AAT) is a possible pathogenic cofactor in antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV). However, the clinical effect of AAT deficiency remains poorly established in this setting. This study aimed to describe the clinical phenotypes and outcomes of AAV according to AAT phenotypes.Methods.This study was conducted retrospectively at Caen University Hospital and included all consecutive granulomatosis with polyangiitis (GPA) and microscopic polyangiitis (MPA) patients with positive proteinase 3-ANCA or myeloperoxidase-ANCA, from January 2000 or September 2011, respectively, to June 2016. AAT dosage (nephelometry) and phenotyping (isoelectric focusing in agarose gel) were performed.Results.Among the 142 patients with AAV, including 88 GPA and 54 MPA, 102 (72%) had the MM phenotype, 5 (4%) had a nonpolymerogenic M-variant phenotype, 18 (13%) had the deficient allele MZ, 12 (8%) had MS, 2 (1%) had ZZ, 2 (1%) had SZ, and 1 (1%) had SS. M, Z, and S allele frequencies were 84%, 8%, and 6%, respectively. No association was observed between AAT deficiency and ANCA subtype or AAV phenotype, except for intraalveolar hemorrhage (IAH), which was more frequent in patients harboring at least 1 of the deficient Z or S alleles than in those without any deficient alleles (p < 0.01). Global, renal, or relapse-free survival rates were similar for all subgroups.Conclusion.This study shows that AAT deficiency confers, independently of ANCA subtype, a higher risk of IAH. Prospective studies are required to refine these data and to assess the need for replacement therapy in AAT-deficient patients with AAV.

scholarly journals Antineutrophil Cytoplasmic Antibody Positivity Is Associated with Vascular Involvement in Behçet's Disease

2021 ◽  
Vol 62 (2) ◽  
pp. 149
Author(s):  
Minyoung Kevin Kim ◽  
Hyeok Chan Kwon ◽  
Jason Jungsik Song ◽  
Yong-Beom Park ◽  
Sang-Won Lee
Keyword(s):  
Behçet’S Disease ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Antineutrophil Cytoplasmic Antibody ◽  
Vascular Involvement ◽  
Behcet's Disease ◽  
Antibody Positivity

scholarly journals Diagnosis of alpha-1-antitrypsin deficiency by DNA analysis of children with liver disease

2001 ◽  
Vol 38 (1) ◽  
pp. 63-68 ◽  
Author(s):  
Adriana Maria Alves De TOMMASO ◽  
Cláudio Lúcio ROSSI ◽  
Cecília Amélia Fazzio ESCANHOELA ◽  
Heliane Guerra SERRA ◽  
Carmen Sílvia BERTUZZO ◽  
...  
Keyword(s):  
Liver Disease ◽  
Chronic Liver Disease ◽  
Dna Analysis ◽  
Hepatic Disease ◽  
Chronic Liver ◽  
Neonatal Cholestasis ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin ◽  
S Allele

Background - Alpha-1-antitrypsin deficiency is a genetic disorder which is transmitted in a co-dominant, autosomal form. Alpha-1-antitrypsin deficiency affects mainly the lungs and the liver leading, in the latter case, to neonatal cholestasis, chronic hepatitis or cirrhosis. A precise diagnosis of Alpha-1-antitrypsin deficiency may be obtained by biochemical or molecular analysis. Objective - The purpose of this study was to use DNA analysis to examine the presence of an alpha-1-antitrypsin deficiency in 12 children suspected of having this deficiency and who showed laboratory and clinical characteristics of the disease. Patients and Methods - Twelve patients, aged 3 months to 19 years, who had serum alpha-1-antitrypsin levels lower than normal and/or had hepatic disease of undefined etiology were studied. The mutant alleles S and Z of the alpha-1-antitrypsin gene were investigated in the 12 children. Alpha-1-antitrypsin gene organization was analyzed by amplification of genoma through the polymerase chain reaction and digestion with the restriction enzymes Xmnl (S allele) and Taq 1 (Z allele). Results - Seven of the 12 patients had chronic liver disease of undefined etiology and the other five patients had low serum levels of alpha-1-antitrypsin as well as a diagnosis of neonatal cholestasis and/or chronic liver disease of undefined etiology. Five of the 12 patients were homozygous for the Z allele (ZZ) and two had the S allele with another allele (*S) different from Z. Conclusion - These results show that alpha-1-antitrypsin deficiency is relatively frequent in children with chronic hepatic disease of undefined etiology and/or low alpha-1-antitrypsin levels (41.6%). A correct diagnosis is important for effective clinical follow-up and for genetic counseling.

scholarly journals High Prevalence of Antineutrophil Cytoplasmic Antibody Positivity in Childhood Onset Graves’ Disease Treated with Propylthiouracil

2000 ◽  
Vol 85 (11) ◽  
pp. 4270-4273
Author(s):  
Hirokazu Sato ◽  
Motoshi Hattori ◽  
Mikiya Fujieda ◽  
Shigetaka Sugihara ◽  
Hiroaki Inomata ◽  
...  
Keyword(s):  
Clinical Manifestations ◽  
Antineutrophil Cytoplasmic Antibody ◽  
Cross Reactivity ◽  
Graves Disease ◽  
Childhood Onset ◽  
First Line ◽  
High Prevalence ◽  
Antibody Positivity ◽  
Antithyroglobulin Antibodies ◽  
The Relationship

Propylthiouracil (PTU)-induced antineutrophil cytoplasmic antibody (ANCA)-related vasculitis and nephritis were recently reported in about 30 patients with hyperthyroidism. The objective of this study was to clarify the prevalence of ANCA and the relationship between ANCA and thyroid antibodies in children with Graves’ disease. Titers of myeloperoxidase (MPO)-ANCA in sera of 51 patients with childhood onset Graves’ disease (16 before treatment, 25 and 10 treated with PTU and methimazole, respectively) were measured by enzyme-linked immunosolvent assay. Antithyroglobulin antibodies (TGAbs) and antithyroperoxidase antibodies (TPOAbs) were also measured by RIA in 25 PTU-treated patients. No patients had clinical manifestations of vasculitis and nephritis. MPO-ANCA was positive in 6.7% of patients before treatment and in 64.0% of those treated with PTU and in none of those treated with methimazole. MPO-ANCA had a significantly positive correlation with TGAbs (P &lt; 0.05) and no significant correlation with TPOAbs. These findings show the high prevalence of the MPO-ANCA positivity in PTU-treated childhood onset Graves’ disease, suggesting that PTU may not be preferred as the first line for the treatment of children with Graves’ disease. The significant correlation between MPO-ANCA and TGAbs indicates that the severity of Graves’ disease may be a factor responsible for the MPO-ANCA positivity. The cross-reactivity between MPO-ANCA and TPOAbs may not play a role in the high prevalence of MPO-ANCA in the patients exposed to PTU.

scholarly journals The spectrum of clinical sequelae associated with alpha-1 antitrypsin deficiency

2021 ◽  
Vol 12_suppl ◽  
pp. 204062232199569
Author(s):  
Vickram Tejwani ◽  
James K. Stoller
Keyword(s):  
Case Series ◽  
Antineutrophil Cytoplasmic Antibody ◽  
The United States ◽  
Chronic Obstructive ◽  
Augmentation Therapy ◽  
Obstructive Pulmonary Disease ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin ◽  
Dominant Condition

Alpha-1 antitrypsin (AAT) deficiency (AATD) is an autosomal co-dominant condition that predisposes to the development of lung disease, primarily emphysema. Emphysema results from the breakdown of lung matrix elastin by proteases, including neutrophil elastase, a protease normally inhibited by AAT. AATD also predisposes to liver (cirrhosis) and skin (panniculitis) disease, and to vasculitis. The prevalence of AATD is estimated to be approximately 1 in 3,500 individuals in the United States. However, lack of awareness of AATD among some physicians, misperceptions regarding the absence of effective therapy, and the close overlap in symptoms with asthma and non-AATD chronic obstructive pulmonary disease are thought to contribute to under-recognition of the disease. In patients with AATD, treatment with intravenous AAT augmentation therapy is the only currently available treatment known to slow the progression of emphysema. Moreover, smoking cessation and other lifestyle interventions also help improve outcomes. Early diagnosis and intervention are of key importance due to the irreversible nature of the resultant emphysema. Liver disease is the second leading cause of death among patients with AATD and a minority of patients present with panniculitis or antineutrophil cytoplasmic antibody-associated vasculitis, thought to be directly related to AATD. Though no randomized trial has assessed the effectiveness of augmentation therapy for AATD-associated panniculitis, clinical experience and case series suggest there is a benefit. Other diseases putatively linked to AATD include aneurysmal disease and multiple neurological conditions, although these associations remain speculative in nature.

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