Adrenoleukodystrophy laboratory findings: Difference between revisions
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==Overview== | ==Overview== | ||
Adrenoleukodystrophy can be diagnosed by checking the plasma levels of VLCFA. DNA-based diagnosis can be obtained to look for mutations in the ABCD1 gene in the case of carriers and is particularly important in the diagnosis of the disease in women. Brain and spinal cord MRI can also suggest the presence of the disease. | |||
==Laboratory Findings== | ==Laboratory Findings== | ||
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===DNA-based Diagnosis=== | ===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. | *[[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=== | ===Brain MRI=== |
Revision as of 09:44, 23 June 2020
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Overview
Adrenoleukodystrophy can be diagnosed by checking the plasma levels of VLCFA. DNA-based diagnosis can be obtained to look for mutations in the ABCD1 gene in the case of carriers and is particularly important in the diagnosis of the disease in women. Brain and spinal cord MRI can also suggest the presence of the disease.
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]
Spinal Cord MRI
- Magnetization transfer-weighted (MTw) images shows signal hyperintensities in the lateral and dorsal columns.[4]
Histopathology: Adrenoleukodystrophy of Brain
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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.
- ↑ Fatemi A, Smith SA, Dubey P, Zackowski KM, Bastian AJ, van Zijl PC; et al. (2005). "Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathy". Neurology. 64 (10): 1739–45. doi:10.1212/01.WNL.0000164458.02141.06. PMID 15911801.