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Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report

Overview of attention for article published in BMC Medical Genetics, July 2017
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Title
Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report
Published in
BMC Medical Genetics, July 2017
DOI 10.1186/s12881-017-0436-1
Pubmed ID
Authors

Melanie M. Y. Chan, Angela Barnicoat, Faiz Mumtaz, Michael Aitchison, Lucy Side, Helen Brittain, Alan W. H. Bates, Daniel P. Gale

Abstract

Fumarate hydratase (FH) deficiency is a rare autosomal recessive disorder which results in a major defect in cellular metabolism. It presents in infancy with progressive encephalopathy, hypotonia, seizures and failure to thrive and is often fatal in childhood. It is caused by mutations in the FH gene (1q42.1) that result in deficiency of the citric acid cycle enzyme fumarate hydratase, resulting in accumulation of fumaric acid. Heterozygous germline mutations in the FH gene predispose to an aggressive autosomal dominant inherited early-onset kidney cancer syndrome: hereditary leiomyomatosis and renal cell cancer (HLRCC). Cascade FH mutation screening enabled the early diagnosis of a renal tumour in an asymptomatic parent of a child with fumarate hydratase deficiency, resulting in timely and possibly life-saving treatment. While the theoretical risk of kidney cancer in parents of children with recessive fumarate hydratase deficiency is well recognized, to our knowledge this is the first report of a kidney tumour being detected in a parent by screening performed for this indication. This underscores the importance of offering lifelong kidney surveillance to such parents and other heterozygous relatives of children born with fumarate hydratase deficiency.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 28 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 28 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 7 25%
Researcher 4 14%
Student > Ph. D. Student 3 11%
Student > Master 3 11%
Student > Doctoral Student 2 7%
Other 3 11%
Unknown 6 21%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 9 32%
Medicine and Dentistry 5 18%
Nursing and Health Professions 4 14%
Agricultural and Biological Sciences 1 4%
Social Sciences 1 4%
Other 1 4%
Unknown 7 25%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 02 August 2017.
All research outputs
#20,441,465
of 22,996,001 outputs
Outputs from BMC Medical Genetics
#845
of 1,030 outputs
Outputs of similar age
#276,792
of 317,087 outputs
Outputs of similar age from BMC Medical Genetics
#18
of 24 outputs
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So far Altmetric has tracked 1,030 research outputs from this source. They receive a mean Attention Score of 3.9. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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We're also able to compare this research output to 24 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.