Fabry's disease screening: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Fabry's disease}} | {{Fabry's disease}} | ||
{{CMG}} {{AE}} | {{CMG}} {{AE}} {{GhazalS}} | ||
==Overview== | ==Overview== | ||
According to National | According to National Society of Genetic Counselors, screening for [[Fabry's disease]] in the patient's family members is recommended. The early [[prenatal]] and [[newborn screening]] can be done by [[α-Gal A enzyme]] and ''[[GLA deficiency|GLA]]'' mutation analyses. Based on the American Heart Failure Society, [[Fabry's disease]] screening should be done in males with unexplained [[cardiac hypertrophy]]. | ||
==Screening== | ==Screening== | ||
*There is insufficient evidence to recommend routine newborn screening for [https://www.wikidoc.org/index.php/Fabry's%20disease Fabry's disease] in general | *There is insufficient evidence to recommend routine newborn screening for [https://www.wikidoc.org/index.php/Fabry's%20disease Fabry's disease] in the general population. | ||
*According to National | *According to the National Society of Genetic Counselors, screening for Fabry's disease for family members of the affected individual is recommended by:<span> </span> | ||
**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 | ||
| Line 16: | Line 16: | ||
***Early prenatal diagnosis: | ***Early prenatal diagnosis: | ||
****10 weeks: [[α-Gal A enzyme]] and ''[[GLA deficiency|GLA]]'' mutation analyses by [[Chorionic villus sampling|chorionic villus]] sampling | ****10 weeks: [[α-Gal A enzyme]] and ''[[GLA deficiency|GLA]]'' mutation analyses by [[Chorionic villus sampling|chorionic villus]] sampling | ||
**** | ****15 weeks: α-Gal A enzyme activity by [[amniocentesis]]<ref name="pmid3035532">{{cite journal| author=Kleijer WJ, Hussaarts-Odijk LM, Sachs ES, Jahoda MG, Niermeijer MF| title=Prenatal diagnosis of Fabry's disease by direct analysis of chorionic villi. | journal=Prenat Diagn | year= 1987 | volume= 7 | issue= 4 | pages= 283-7 | pmid=3035532 | doi=10.1002/pd.1970070409 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3035532 }}</ref> | ||
**Newborn screening | **Newborn screening | ||
***In males: α-Gal A activity and ''GLA'' gene sequencing in blood spots<ref name="pmid16773563">{{cite journal| author=Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H | display-authors=etal| title=High incidence of later-onset fabry disease revealed by newborn screening. | journal=Am J Hum Genet | year= 2006 | volume= 79 | issue= 1 | pages= 31-40 | pmid=16773563 | doi=10.1086/504601 | pmc=1474133 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16773563 }}</ref><ref name="pmid29143201">{{cite journal| author=Burlina AB, Polo G, Salviati L, Duro G, Zizzo C, Dardis A | display-authors=etal| title=Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy. | journal=J Inherit Metab Dis | year= 2018 | volume= 41 | issue= 2 | pages= 209-219 | pmid=29143201 | doi=10.1007/s10545-017-0098-3 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29143201 }}</ref> | ***In males: α-Gal A activity and ''GLA'' gene sequencing in blood spots<ref name="pmid16773563">{{cite journal| author=Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H | display-authors=etal| title=High incidence of later-onset fabry disease revealed by newborn screening. | journal=Am J Hum Genet | year= 2006 | volume= 79 | issue= 1 | pages= 31-40 | pmid=16773563 | doi=10.1086/504601 | pmc=1474133 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16773563 }}</ref><ref name="pmid29143201">{{cite journal| author=Burlina AB, Polo G, Salviati L, Duro G, Zizzo C, Dardis A | display-authors=etal| title=Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy. | journal=J Inherit Metab Dis | year= 2018 | volume= 41 | issue= 2 | pages= 209-219 | pmid=29143201 | doi=10.1007/s10545-017-0098-3 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29143201 }}</ref> | ||
*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> | *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 the dialysis population. | ||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
[[Category: | [[Category:Up to Date]] | ||
Latest revision as of 18:00, 14 July 2022
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ghazal Sanadgol, M.D.[2]
Overview
According to National Society of Genetic Counselors, screening for Fabry's disease in the patient's family members is recommended. The early prenatal and newborn screening can be done by α-Gal A enzyme and GLA mutation analyses. Based on the American Heart Failure Society, Fabry's disease screening should be done in males with unexplained cardiac hypertrophy.
Screening
- There is insufficient evidence to recommend routine newborn screening for Fabry's disease in the general population.
- According to the National Society of Genetic Counselors, screening for Fabry's disease for family members of the affected individual is recommended by:
- Measuring alpha-galactosidase activity in men
- Sequencing the GLA gene in females
- Prenatal and preimplantation testing
- Early prenatal diagnosis:
- 10 weeks: α-Gal A enzyme and GLA mutation analyses by chorionic villus sampling
- 15 weeks: α-Gal A enzyme activity by amniocentesis[1]
- Early prenatal diagnosis:
- Newborn screening
- 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.[4]
- There is insufficient evidence to recommend routine screening for Fabry's disease in the dialysis population.
References
- ↑ Kleijer WJ, Hussaarts-Odijk LM, Sachs ES, Jahoda MG, Niermeijer MF (1987). "Prenatal diagnosis of Fabry's disease by direct analysis of chorionic villi". Prenat Diagn. 7 (4): 283–7. doi:10.1002/pd.1970070409. PMID 3035532.
- ↑ Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H; et al. (2006). "High incidence of later-onset fabry disease revealed by newborn screening". Am J Hum Genet. 79 (1): 31–40. doi:10.1086/504601. PMC 1474133. PMID 16773563.
- ↑ Burlina AB, Polo G, Salviati L, Duro G, Zizzo C, Dardis A; et al. (2018). "Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy". J Inherit Metab Dis. 41 (2): 209–219. doi:10.1007/s10545-017-0098-3. PMID 29143201.
- ↑ 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.