Adrenoleukodystrophy secondary prevention: Difference between revisions
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==Overview== | |||
The objective of secondary prevention in adrenoleukodystrophy is to diagnose it early, preferably before neurological symptoms appear so as to prevent nerve cell damage from occurring, initiating timely adrenal steroid replacement therapy following detection of adrenal insufficiency, and for providing allogeneic hematopoietic stem cell transplantation (HSCT) as a means of treating cerebral ALD. In February 2016, adrenoleukodystrophy was added to the Recommended Uniform Screening Panel (RUSP) in the USA, which is the federal list of all genetic diseases recommended for state newborn screening programs. | |||
==Secondary Prevention== | |||
The objective of secondary prevention in adrenoleukodystrophy is to '''diagnose''' it early, preferably before neurological symptoms appear so as to prevent nerve cell damage from occurring, initiating timely adrenal steroid replacement therapy following detection of adrenal insufficiency, and for providing allogeneic hematopoietic stem cell transplantation (HSCT) as a means of treating cerebral ALD. In February 2016, adrenoleukodystrophy was added to the Recommended Uniform Screening Panel (RUSP) in the USA<ref name="pmid273370302">{{cite journal| author=Kemper AR, Brosco J, Comeau AM, Green NS, Grosse SD, Jones E | display-authors=etal| title=Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation. | journal=Genet Med | year= 2017 | volume= 19 | issue= 1 | pages= 121-126 | pmid=27337030 | doi=10.1038/gim.2016.68 | pmc=5182180 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27337030 }}</ref>, which is the federal list of all genetic diseases recommended for state newborn screening programs. | |||
==References== | ==References== | ||
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[[Category:Endocrinology]] | |||
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Latest revision as of 15:13, 29 June 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Please help WikiDoc by adding content here. It's easy! Click here to learn about editing.
Overview
The objective of secondary prevention in adrenoleukodystrophy is to diagnose it early, preferably before neurological symptoms appear so as to prevent nerve cell damage from occurring, initiating timely adrenal steroid replacement therapy following detection of adrenal insufficiency, and for providing allogeneic hematopoietic stem cell transplantation (HSCT) as a means of treating cerebral ALD. In February 2016, adrenoleukodystrophy was added to the Recommended Uniform Screening Panel (RUSP) in the USA, which is the federal list of all genetic diseases recommended for state newborn screening programs.
Secondary Prevention
The objective of secondary prevention in adrenoleukodystrophy is to diagnose it early, preferably before neurological symptoms appear so as to prevent nerve cell damage from occurring, initiating timely adrenal steroid replacement therapy following detection of adrenal insufficiency, and for providing allogeneic hematopoietic stem cell transplantation (HSCT) as a means of treating cerebral ALD. In February 2016, adrenoleukodystrophy was added to the Recommended Uniform Screening Panel (RUSP) in the USA[1], which is the federal list of all genetic diseases recommended for state newborn screening programs.
References
- ↑ Kemper AR, Brosco J, Comeau AM, Green NS, Grosse SD, Jones E; et al. (2017). "Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation". Genet Med. 19 (1): 121–126. doi:10.1038/gim.2016.68. PMC 5182180. PMID 27337030.