Adrenoleukodystrophy laboratory findings: Difference between revisions
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==Laboratory Findings== | ==Laboratory Findings== | ||
*The diagnosis is established by clinical findings and the detection of [[blood plasma|serum]] long chain [[fatty acid]] levels. | |||
*[[Chromosome]] study to look for changes ([[mutations]]) in the [[ABCD1]] gene | ===Plasma VLCFA Assay=== | ||
*The diagnosis is established by clinical findings and the detection of [[blood plasma|serum]] long chain [[fatty acid]] levels.<ref name="pmid9894883">{{cite journal| author=Moser AB, Kreiter N, Bezman L, Lu S, Raymond GV, Naidu S | display-authors=etal| title=Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. | journal=Ann Neurol | year= 1999 | volume= 45 | issue= 1 | pages= 100-10 | pmid=9894883 | doi=10.1002/1531-8249(199901)45:1<100::aid-art16>3.0.co;2-u | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9894883 }} </ref> | |||
===DNA-based Diagnosis=== | |||
*[[Chromosome]] study to look for changes ([[mutations]]) in the [[ABCD1]] gene. It is particularly reliable in carriers<ref name="pmid10068516">{{cite journal| author=Boehm CD, Cutting GR, Lachtermacher MB, Moser HW, Chong SS| title=Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy. | journal=Mol Genet Metab | year= 1999 | volume= 66 | issue= 2 | pages= 128-36 | pmid=10068516 | doi=10.1006/mgme.1998.2779 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10068516 }} </ref> and recommended as the diagnostic assay in women. | |||
===Brain MRI=== | |||
*Abnormal bright signal intensities on the T2-weighted MRI images indicating demyelination of the white matter fibers and tracts. <ref name="pmid3659373">{{cite journal| author=Kumar AJ, Rosenbaum AE, Naidu S, Wener L, Citrin CM, Lindenberg R | display-authors=etal| title=Adrenoleukodystrophy: correlating MR imaging with CT. | journal=Radiology | year= 1987 | volume= 165 | issue= 2 | pages= 497-504 | pmid=3659373 | doi=10.1148/radiology.165.2.3659373 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3659373 }} </ref> | |||
===Histopathology: Adrenoleukodystrophy of Brain=== | ===Histopathology: Adrenoleukodystrophy of Brain=== | ||
{{#ev:youtube|bv_Ra5pxPRI}} | {{#ev:youtube|bv_Ra5pxPRI}} | ||
==References== | ==References== |
Revision as of 09:26, 23 June 2020
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Overview
Laboratory Findings
Plasma VLCFA Assay
- The diagnosis is established by clinical findings and the detection of serum long chain fatty acid levels.[1]
DNA-based Diagnosis
- Chromosome study to look for changes (mutations) in the ABCD1 gene. It is particularly reliable in carriers[2] and recommended as the diagnostic assay in women.
Brain MRI
- Abnormal bright signal intensities on the T2-weighted MRI images indicating demyelination of the white matter fibers and tracts. [3]
Histopathology: Adrenoleukodystrophy of Brain
{{#ev:youtube|bv_Ra5pxPRI}}
References
- ↑ Moser AB, Kreiter N, Bezman L, Lu S, Raymond GV, Naidu S; et al. (1999). "Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls". Ann Neurol. 45 (1): 100–10. doi:10.1002/1531-8249(199901)45:1<100::aid-art16>3.0.co;2-u. PMID 9894883.
- ↑ Boehm CD, Cutting GR, Lachtermacher MB, Moser HW, Chong SS (1999). "Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy". Mol Genet Metab. 66 (2): 128–36. doi:10.1006/mgme.1998.2779. PMID 10068516.
- ↑ Kumar AJ, Rosenbaum AE, Naidu S, Wener L, Citrin CM, Lindenberg R; et al. (1987). "Adrenoleukodystrophy: correlating MR imaging with CT". Radiology. 165 (2): 497–504. doi:10.1148/radiology.165.2.3659373. PMID 3659373.