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Hereditary alpha-1-antitrypsin deficiency and its clinical consequences

Overview of attention for article published in Orphanet Journal of Rare Diseases, June 2008
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (94th percentile)
  • Average Attention Score compared to outputs of the same age and source

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1 blog
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4 X users
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10 Facebook pages
wikipedia
5 Wikipedia pages
pinterest
1 Pinner

Citations

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183 Dimensions

Readers on

mendeley
287 Mendeley
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3 CiteULike
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Title
Hereditary alpha-1-antitrypsin deficiency and its clinical consequences
Published in
Orphanet Journal of Rare Diseases, June 2008
DOI 10.1186/1750-1172-3-16
Pubmed ID
Authors

Laura Fregonese, Jan Stolk

Abstract

Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that manifests as pulmonary emphysema, liver cirrhosis and, rarely, as the skin disease panniculitis, and is characterized by low serum levels of AAT, the main protease inhibitor (PI) in human serum. The prevalence in Western Europe and in the USA is estimated at approximately 1 in 2,500 and 1 : 5,000 newborns, and is highly dependent on the Scandinavian descent within the population. The most common deficiency alleles in North Europe are PI Z and PI S, and the majority of individuals with severe AATD are PI type ZZ. The clinical manifestations may widely vary between patients, ranging from asymptomatic in some to fatal liver or lung disease in others. Type ZZ and SZ AATD are risk factors for the development of respiratory symptoms (dyspnoea, coughing), early onset emphysema, and airflow obstruction early in adult life. Environmental factors such as cigarette smoking, and dust exposure are additional risk factors and have been linked to an accelerated progression of this condition. Type ZZ AATD may also lead to the development of acute or chronic liver disease in childhood or adulthood: prolonged jaundice after birth with conjugated hyperbilirubinemia and abnormal liver enzymes are characteristic clinical signs. Cirrhotic liver failure may occur around age 50. In very rare cases, necrotizing panniculitis and secondary vasculitis may occur. AATD is caused by mutations in the SERPINA1 gene encoding AAT, and is inherited as an autosomal recessive trait. The diagnosis can be established by detection of low serum levels of AAT and isoelectric focusing. Differential diagnoses should exclude bleeding disorders or jaundice, viral infection, hemochromatosis, Wilson's disease and autoimmune hepatitis. For treatment of lung disease, intravenous alpha-1-antitrypsin augmentation therapy, annual flu vaccination and a pneumococcal vaccine every 5 years are recommended. Relief of breathlessness may be obtained with long-acting bronchodilators and inhaled corticosteroids. The end-stage liver and lung disease can be treated by organ transplantation. In AATD patients with cirrhosis, prognosis is generally grave.

X Demographics

X Demographics

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 287 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 3 1%
Germany 2 <1%
Canada 2 <1%
Norway 1 <1%
Italy 1 <1%
France 1 <1%
United Kingdom 1 <1%
Spain 1 <1%
Philippines 1 <1%
Other 0 0%
Unknown 274 95%

Demographic breakdown

Readers by professional status Count As %
Researcher 46 16%
Student > Ph. D. Student 43 15%
Student > Bachelor 42 15%
Student > Master 29 10%
Student > Doctoral Student 23 8%
Other 55 19%
Unknown 49 17%
Readers by discipline Count As %
Medicine and Dentistry 100 35%
Agricultural and Biological Sciences 49 17%
Biochemistry, Genetics and Molecular Biology 30 10%
Nursing and Health Professions 9 3%
Pharmacology, Toxicology and Pharmaceutical Science 5 2%
Other 37 13%
Unknown 57 20%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 17. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 22 June 2022.
All research outputs
#2,031,886
of 24,226,848 outputs
Outputs from Orphanet Journal of Rare Diseases
#230
of 2,854 outputs
Outputs of similar age
#5,118
of 85,506 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#7
of 11 outputs
Altmetric has tracked 24,226,848 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 91st percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,854 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.9. This one has done particularly well, scoring higher than 91% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 85,506 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 94% of its contemporaries.
We're also able to compare this research output to 11 others from the same source and published within six weeks on either side of this one. This one is in the 45th percentile – i.e., 45% of its contemporaries scored the same or lower than it.