Fabry's disease screening: Difference between revisions
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{{Fabry's disease}} | {{Fabry's disease}} | ||
* There is insufficient evidence to recommend routine newborn screening for [https://www.wikidoc.org/index.php/Fabry's%20disease Fabry's disease] in general papulation. | *There is insufficient evidence to recommend routine newborn screening for [https://www.wikidoc.org/index.php/Fabry's%20disease Fabry's disease] in general papulation. | ||
* According to National society of Genetic Counselors, screening for Fabry's disease for family members of individual affected is recommended by | *According to National society of Genetic Counselors, screening for Fabry's disease for family members of individual affected is recommended by : | ||
** Measuring [https://www.wikidoc.org/index.php/Alpha-galactosidase alpha-galactosidase] activity in men | **Measuring [https://www.wikidoc.org/index.php/Alpha-galactosidase alpha-galactosidase] activity in men | ||
** Sequencing the GLA [https://www.wikidoc.org/index.php/Gene gene] in females | **Sequencing the GLA [https://www.wikidoc.org/index.php/Gene gene] in females | ||
** [https://www.wikidoc.org/index.php/Prenatal Prenatal] testing | **[https://www.wikidoc.org/index.php/Prenatal Prenatal] testing | ||
* According to the 2009 Heart Failure Society of America, screening for Fabry's disease is recommended for all men with sporadic or non-autosomal transmission of <u>unexplained</u> [[cardiac hypertrophy]]. | *According to the 2009 Heart Failure Society of America, screening for Fabry's disease is recommended for all men with sporadic or non-autosomal transmission of <u>unexplained</u> [[cardiac hypertrophy]].<ref name="pmid19254666">{{cite journal| author=Hershberger RE, Lindenfeld J, Mestroni L, Seidman CE, Taylor MR, Towbin JA | display-authors=etal| title=Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline. | journal=J Card Fail | year= 2009 | volume= 15 | issue= 2 | pages= 83-97 | pmid=19254666 | doi=10.1016/j.cardfail.2009.01.006 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19254666 }}</ref> | ||
* There is insufficient evidence to recommend routine screening for [https://www.wikidoc.org/index.php/Fabry's%20disease Fabry's disease] in dialysis population. | *There is insufficient evidence to recommend routine screening for [https://www.wikidoc.org/index.php/Fabry's%20disease Fabry's disease] in dialysis population. | ||
==References== | ==References== | ||
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[[Category:Needs content]] | [[Category:Needs content]] | ||
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Revision as of 10:03, 2 April 2022
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Risk calculators and risk factors for Fabry's disease screening |
- There is insufficient evidence to recommend routine newborn screening for Fabry's disease in general papulation.
- According to National society of Genetic Counselors, screening for Fabry's disease for family members of individual affected is recommended by :
- Measuring alpha-galactosidase activity in men
- Sequencing the GLA gene in females
- Prenatal testing
- According to the 2009 Heart Failure Society of America, screening for Fabry's disease is recommended for all men with sporadic or non-autosomal transmission of unexplained cardiac hypertrophy.[1]
- There is insufficient evidence to recommend routine screening for Fabry's disease in dialysis population.
References
- ↑ Hershberger RE, Lindenfeld J, Mestroni L, Seidman CE, Taylor MR, Towbin JA; et al. (2009). "Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline". J Card Fail. 15 (2): 83–97. doi:10.1016/j.cardfail.2009.01.006. PMID 19254666.