Glycogen storage disease type II primary prevention: Difference between revisions
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Effective measures for primary prevention of glycogen storage disease type 2 (GSD type 2) include:<ref name="pmid16702877">{{cite journal| author=ACMG Work Group on Management of Pompe Disease. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ et al.| title=Pompe disease diagnosis and management guideline. | journal=Genet Med | year= 2006 | volume= 8 | issue= 5 | pages= 267-88 | pmid=16702877 | doi=10.109701.gim.0000218152.87434.f3 | pmc=3110959 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16702877 }} </ref> | Effective measures for primary prevention of glycogen storage disease type 2 (GSD type 2) include:<ref name="pmid16702877">{{cite journal| author=ACMG Work Group on Management of Pompe Disease. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ et al.| title=Pompe disease diagnosis and management guideline. | journal=Genet Med | year= 2006 | volume= 8 | issue= 5 | pages= 267-88 | pmid=16702877 | doi=10.109701.gim.0000218152.87434.f3 | pmc=3110959 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16702877 }} </ref> | ||
* '''Genetic counseling:''' [[Genetic counseling]] should be offered to all parents with a child with GSD type 2 and to all adults with GSD type 2. | * '''Genetic counseling:''' [[Genetic counseling]] should be offered to all parents with a child with GSD type 2 and to all adults with GSD type 2. | ||
* '''Prenatal diagnosis:''' The preferred method for [[prenatal diagnosis]] is by measuring enzyme activity in uncultured chorionic villus samples.<ref name="pmid1589418">{{cite journal| author=Park HK, Kay HH, McConkie-Rosell A, Lanman J, Chen YT| title=Prenatal diagnosis of Pompe's disease (type II glycogenosis) in chorionic villus biopsy using maltose as a substrate. | journal=Prenat Diagn | year= 1992 | volume= 12 | issue= 3 | pages= 169-73 | pmid=1589418 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1589418 }} </ref><ref name="pmid3891160">{{cite journal| author=Besançon AM, Castelnau L, Nicolesco H, Dumez Y, Poenaru L| title=Prenatal diagnosis of glycogenosis type II (Pompe's disease) using chorionic villi biopsy. | journal=Clin Genet | year= 1985 | volume= 27 | issue= 5 | pages= 479-82 | pmid=3891160 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3891160 }} </ref> | * '''Prenatal diagnosis:''' The preferred method for [[prenatal diagnosis]] is by measuring [[enzyme]] activity in uncultured [[Chorionic villi|chorionic villus]] samples.<ref name="pmid1589418">{{cite journal| author=Park HK, Kay HH, McConkie-Rosell A, Lanman J, Chen YT| title=Prenatal diagnosis of Pompe's disease (type II glycogenosis) in chorionic villus biopsy using maltose as a substrate. | journal=Prenat Diagn | year= 1992 | volume= 12 | issue= 3 | pages= 169-73 | pmid=1589418 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1589418 }} </ref><ref name="pmid3891160">{{cite journal| author=Besançon AM, Castelnau L, Nicolesco H, Dumez Y, Poenaru L| title=Prenatal diagnosis of glycogenosis type II (Pompe's disease) using chorionic villi biopsy. | journal=Clin Genet | year= 1985 | volume= 27 | issue= 5 | pages= 479-82 | pmid=3891160 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3891160 }} </ref> | ||
* '''Screening:''' | * '''Screening:''' | ||
**The [[Probands|proband's]] GAA [[Mutation|mutations]] should be determined for diagnosis and direct further testing for family members. | **The [[Probands|proband's]] GAA [[Mutation|mutations]] should be determined for diagnosis and direct further testing for family members. | ||
**Mutation analysis is the gold standard when there is a family history of GSD type 2.<ref name="pmid7478785">{{cite journal| author=Kleijer WJ, van der Kraan M, Kroos MA, Groener JE, van Diggelen OP, Reuser AJ et al.| title=Prenatal diagnosis of glycogen storage disease type II: enzyme assay or mutation analysis? | journal=Pediatr Res | year= 1995 | volume= 38 | issue= 1 | pages= 103-6 | pmid=7478785 | doi=10.1203/00006450-199507000-00018 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7478785 }} </ref> | **[[Mutation]] analysis is the gold standard when there is a family history of GSD type 2.<ref name="pmid7478785">{{cite journal| author=Kleijer WJ, van der Kraan M, Kroos MA, Groener JE, van Diggelen OP, Reuser AJ et al.| title=Prenatal diagnosis of glycogen storage disease type II: enzyme assay or mutation analysis? | journal=Pediatr Res | year= 1995 | volume= 38 | issue= 1 | pages= 103-6 | pmid=7478785 | doi=10.1203/00006450-199507000-00018 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7478785 }} </ref> | ||
**If the mutation of glycogen storage disease type 2 is identified in a family, preimplantation genetic diagnosis may also be used. | **If the [[mutation]] of glycogen storage disease type 2 is identified in a family, [[preimplantation genetic diagnosis (PGD)]] may also be used. | ||
==References== | ==References== |
Revision as of 20:00, 22 January 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]
Overview
Effective measures for primary prevention of glycogen storage disease type 2 (GSD type 2) include genetic counselling, prenatal diagnosis, and screening.
Primary Prevention
Effective measures for primary prevention of glycogen storage disease type 2 (GSD type 2) include:[1]
- Genetic counseling: Genetic counseling should be offered to all parents with a child with GSD type 2 and to all adults with GSD type 2.
- Prenatal diagnosis: The preferred method for prenatal diagnosis is by measuring enzyme activity in uncultured chorionic villus samples.[2][3]
- Screening:
- The proband's GAA mutations should be determined for diagnosis and direct further testing for family members.
- Mutation analysis is the gold standard when there is a family history of GSD type 2.[4]
- If the mutation of glycogen storage disease type 2 is identified in a family, preimplantation genetic diagnosis (PGD) may also be used.
References
- ↑ ACMG Work Group on Management of Pompe Disease. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ; et al. (2006). "Pompe disease diagnosis and management guideline". Genet Med. 8 (5): 267–88. doi:10.109701.gim.0000218152.87434.f3 Check
|doi=
value (help). PMC 3110959. PMID 16702877. - ↑ Park HK, Kay HH, McConkie-Rosell A, Lanman J, Chen YT (1992). "Prenatal diagnosis of Pompe's disease (type II glycogenosis) in chorionic villus biopsy using maltose as a substrate". Prenat Diagn. 12 (3): 169–73. PMID 1589418.
- ↑ Besançon AM, Castelnau L, Nicolesco H, Dumez Y, Poenaru L (1985). "Prenatal diagnosis of glycogenosis type II (Pompe's disease) using chorionic villi biopsy". Clin Genet. 27 (5): 479–82. PMID 3891160.
- ↑ Kleijer WJ, van der Kraan M, Kroos MA, Groener JE, van Diggelen OP, Reuser AJ; et al. (1995). "Prenatal diagnosis of glycogen storage disease type II: enzyme assay or mutation analysis?". Pediatr Res. 38 (1): 103–6. doi:10.1203/00006450-199507000-00018. PMID 7478785.