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Progressive familial intrahepatic cholestasis

Overview of attention for article published in Orphanet Journal of Rare Diseases, January 2009
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (89th percentile)
  • High Attention Score compared to outputs of the same age and source (93rd percentile)

Mentioned by

news
1 news outlet
patent
16 patents
wikipedia
1 Wikipedia page

Citations

dimensions_citation
240 Dimensions

Readers on

mendeley
143 Mendeley
citeulike
1 CiteULike
connotea
2 Connotea
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Title
Progressive familial intrahepatic cholestasis
Published in
Orphanet Journal of Rare Diseases, January 2009
DOI 10.1186/1750-1172-4-1
Pubmed ID
Authors

Anne Davit-Spraul, Emmanuel Gonzales, Christiane Baussan, Emmanuel Jacquemin

Abstract

Progressive familial intrahepatic cholestasis (PFIC) refers to heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. The exact prevalence remains unknown, but the estimated incidence varies between 1/50,000 and 1/100,000 births. Three types of PFIC have been identified and related to mutations in hepatocellular transport system genes involved in bile formation. PFIC1 and PFIC2 usually appear in the first months of life, whereas onset of PFIC3 may also occur later in infancy, in childhood or even during young adulthood. Main clinical manifestations include cholestasis, pruritus and jaundice. PFIC patients usually develop fibrosis and end-stage liver disease before adulthood. Serum gamma-glutamyltransferase (GGT) activity is normal in PFIC1 and PFIC2 patients, but is elevated in PFIC3 patients. Both PFIC1 and PFIC2 are caused by impaired bile salt secretion due respectively to defects in ATP8B1 encoding the FIC1 protein, and in ABCB11 encoding the bile salt export pump protein (BSEP). Defects in ABCB4, encoding the multi-drug resistant 3 protein (MDR3), impair biliary phospholipid secretion resulting in PFIC3. Diagnosis is based on clinical manifestations, liver ultrasonography, cholangiography and liver histology, as well as on specific tests for excluding other causes of childhood cholestasis. MDR3 and BSEP liver immunostaining, and analysis of biliary lipid composition should help to select PFIC candidates in whom genotyping could be proposed to confirm the diagnosis. Antenatal diagnosis can be proposed for affected families in which a mutation has been identified. Ursodeoxycholic acid (UDCA) therapy should be initiated in all patients to prevent liver damage. In some PFIC1 or PFIC2 patients, biliary diversion can also relieve pruritus and slow disease progression. However, most PFIC patients are ultimately candidates for liver transplantation. Monitoring of hepatocellular carcinoma, especially in PFIC2 patients, should be offered from the first year of life. Hepatocyte transplantation, gene therapy or specific targeted pharmacotherapy may represent alternative treatments in the future.

Mendeley readers

The data shown below were compiled from readership statistics for 143 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Canada 2 1%
United Kingdom 2 1%
Portugal 1 <1%
France 1 <1%
New Zealand 1 <1%
Egypt 1 <1%
Argentina 1 <1%
United States 1 <1%
Unknown 133 93%

Demographic breakdown

Readers by professional status Count As %
Researcher 23 16%
Student > Postgraduate 19 13%
Student > Ph. D. Student 18 13%
Other 14 10%
Student > Master 13 9%
Other 31 22%
Unknown 25 17%
Readers by discipline Count As %
Medicine and Dentistry 61 43%
Agricultural and Biological Sciences 20 14%
Biochemistry, Genetics and Molecular Biology 16 11%
Pharmacology, Toxicology and Pharmaceutical Science 5 3%
Immunology and Microbiology 2 1%
Other 6 4%
Unknown 33 23%

Attention Score in Context

This research output has an Altmetric Attention Score of 13. 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 20 July 2021.
All research outputs
#1,891,480
of 19,342,442 outputs
Outputs from Orphanet Journal of Rare Diseases
#225
of 2,111 outputs
Outputs of similar age
#31,617
of 309,130 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#2
of 16 outputs
Altmetric has tracked 19,342,442 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 90th percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,111 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.5. This one has done well, scoring higher than 89% 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 309,130 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 89% of its contemporaries.
We're also able to compare this research output to 16 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 93% of its contemporaries.