alpha 1-Antitrypsin and coeliac disease in spain.

Klasen, E.C.; Polanco, Isabel; Biemond, I.; Vazquez, C.; Peña, Amado Salvador

doi:10.1136/gut.21.11.948

Cited by 14 publications

(4 citation statements)

References 11 publications

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“…Overview. A total of 28 control cohorts were selected from studies performed in Spain (42,(76)(77)(78)(79)(80)(81)(82)(83)(84)(85)(86)(87)(88)(89)(90)(91)(92).…”

Section: Spainmentioning

confidence: 99%

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Genetic epidemiology of alpha‐1 antitrypsin deficiency in southern Europe: France, Italy, Portugal and Spain

2003

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Alpha-1-antitrypsin deficiency (AAT deficiency) is one of the most common serious hereditary disorders in the world because it affects all major racial subgroups worldwide and there are at least 120.5 million carriers and deficient subjects worldwide. This genetic disease is related to a high risk for development of jaundice in infants, liver disease in children and adults, and pulmonary emphysema in adults. Moreover, AAT-deficiency carrier phenotypes (PiMS and PiMZ) and deficiency-allele phenotypes (PiSS, PiSZ, and PiZZ) are suspected to make subjects susceptible to a variety of other adverse health effects. As there is a limited database on the number of individuals affected by this disease worldwide, the authors of the present report collected data on control cohorts in genetic epidemiological studies published in the peer-reviewed literature worldwide. The data collected were used to estimate the numbers of carriers and deficiency-allele combinations for the two most common defective alleles, namely PiS and PiZ, in over 58 countries worldwide. The present report focuses on the distribution of the PiS and PiZ deficiency alleles in France, Italy, Portugal, and Spain. The total number of individuals at risk for adverse health effects were as follows: 9, 101, 739 in France; 4, 289, 566 in Italy; 2, 659, 241 in Portugal; and 8, 903, 773 in Spain. The geographical distribution of individual control cohorts and estimates of the numbers of carriers and deficiency-allele phenotypes in each of these four southern European countries are shown in individual tables and maps. This report will be followed by other reports on the remaining countries in Europe, as well as worldwide.

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“…Overview. A total of 28 control cohorts were selected from studies performed in Spain (42,(76)(77)(78)(79)(80)(81)(82)(83)(84)(85)(86)(87)(88)(89)(90)(91)(92).…”

Section: Spainmentioning

confidence: 99%

“…Overview. A total of 28 control cohorts were selected from studies performed in Spain (42,76–92). The results are shown in Table 5 and Fig.…”

mentioning

confidence: 99%

Genetic epidemiology of alpha‐1 antitrypsin deficiency in southern Europe: France, Italy, Portugal and Spain

2003

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“…The optimism associated with early transplantation before the onset of complications of chronic liver tive glomerulonephritis, 95,96 rheumatoid arthritis, 97 pancreatic fibrosis, 98 panniculitis, 99 peptic ulcer disease, 100 celiac disease should be accompanied by the recognition that there may be little or no progression of the liver injury in these disease, 101 and vasculitis. 102 For the association of membranoproliferative glomerulonephritis it is still not clear whether patients for many years.…”

Section: Aid Hepa 0043mentioning

confidence: 99%

Molecular pathogenesis of liver disease in ?1-antitrypsin deficiency

Teckman

Perlmutter

1996

Hepatology

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“…Research also suggests that low levels of AAT (AAT deficiency) may be associated with the etiology of Celiac disease (CD). 10–17 We previously reported that a significant number of autistic family members had lower than normal serum levels of alpha-1 antitrypsin (AAT). 18…”

Section: Introductionmentioning

confidence: 99%

Relationship between Celiac Disease Markers and Gastrointestinal Disease in Children with Autism

Russo

2010

Immunol Immunogenet Insights

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Aim: This study was designed to determine if there is a relationship between celiac disease (CD) and the presence of gastrointestinal disease (GI) disease in children with autism. Subjects and Methods: One hundred twenty-two children were tested for IgG and IgA anti-transglutaminase autoantibodies (55 autistic children with GI disease, 28 non autistic children with no GI disease, 30 autistic children with no GI disease, and 9 non autistic children with GI Disease). We also compared the presence/level of these autoantibodies to presence of anti-neutrophil cytoplasmic antibodies (ANCA) and level of Alpha-1 Antitrypsin (AAT). Results: We did not find a significant difference in the level of anti-transglutaminase IgG or IgA in autistic children with GI disease compared to controls. However, we found a significant relationship between the presence of ANCA and low-level IgG anti-transglutaminase IgG in children with autism and GI disease. Discussion: Although there appears to be no relationship between these celiac disease markers and the presence of GI disease in autistic children, these results suggest a possible association between sub diagnostic levels of anti-transglutaminase IgG and the presence of ANCA, and therefore, supports the hypothesis that there is a generalized autoimmune dysfunction in autistic children with GI disease.

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alpha 1-Antitrypsin and coeliac disease in spain.

Cited by 14 publications

References 11 publications

Genetic epidemiology of alpha‐1 antitrypsin deficiency in southern Europe: France, Italy, Portugal and Spain

Genetic epidemiology of alpha‐1 antitrypsin deficiency in southern Europe: France, Italy, Portugal and Spain

Molecular pathogenesis of liver disease in ?1-antitrypsin deficiency

Relationship between Celiac Disease Markers and Gastrointestinal Disease in Children with Autism

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