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Hepatolenticular degeneration was first described by Wilson in 1912, so it is also called Wilson Disease (WD)
.
It is an autosomal recessive inherited disorder of copper metabolism.
Hepatolenticular degeneration was first described by Wilson in 1912, so it is also called Wilson Disease (WD)
The main features of WD are liver disease, neuropsychiatric disorders, and the Kayser-Fleischer (KF) ring
.
The presence of a KF loop with neurological manifestations and/or low serum ceruloplasmin (Cp) is considered sufficient to establish a diagnosis of WD
The main features of WD are liver disease, neuropsychiatric disorders, and the Kayser-Fleischer (KF) ring
Existing clinical standards and genetic testing have great limitations in the diagnosis of hepatolenticular degeneration (WD), which often leads to delays in diagnosis and ineffective treatment
The research team obtained 264 samples and 150 normal controls from the biobanks of 3 international and 2 American academic centers
.
Including patients with genetic or clinically confirmed WD with a Leipzig score> 3, as well as obligate heterozygotes (carriers) from affected family members
The research team obtained 264 samples and 150 normal controls from the biobanks of 3 international and 2 American academic centers
The results show that the ATP7B peptide concentration has a high diagnostic potential
Because this method detects ATP7B peptides produced in peripheral blood, liver synthesis dysfunction has little or no effect on the concentration of ATP7B peptides in DBS, which is another advantage of this method
The results of the study confirmed that in 92.
Diagnostic performance of ATP7B peptide analysis
Diagnostic performance of ATP7B peptide analysis Diagnostic performance of ATP7B peptide analysisAfter confirmatory studies are conducted in the future, the current statistical methods for predicting significance may change
.
In addition, few cases of fulminant WD and hemolysis have been studied
After confirmatory studies are conducted in the future, the current statistical methods for predicting significance may change
In short, this non-invasive test can be used as an auxiliary test for WD diagnosis, and is expected to fundamentally promote the use of proteomics technology as a rapid screening tool.
This is a promising but undeveloped field
.
In short, this non-invasive test can be used as an auxiliary test for WD diagnosis, and is expected to fundamentally promote the use of proteomics technology as a rapid screening tool.
This is a promising but undeveloped field
.
This non-invasive test can be used as an auxiliary test for WD diagnosis and is expected to fundamentally promote the use of proteomics technology as a rapid screening tool.
This is a promising but undeveloped field
.
This non-invasive test can be used as an auxiliary test for WD diagnosis and is expected to fundamentally promote the use of proteomics technology as a rapid screening tool.
This is a promising but undeveloped field
.
Reference: Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease Christopher J.
Collins Fan Yi Remwilyn Dayuha Michael L.
Schilsky Peter Ferenci Si Houn Hahn Show all authors Open Access.
DOI: https://doi.
org/ 10.
1053/j.
gastro.
2021.
02.
052
Collins Fan Yi Remwilyn Dayuha Michael L.
Schilsky Peter Ferenci Si Houn Hahn Show all authors Open Access.
DOI: https://doi.
org/ 10.
1053/j.
gastro.
2021.
02.
052 DOI: https://doi.
org/10.
1053/j.
gastro.
2021.
02.
052 Leave a message here