Glycogen storage disease type II primary prevention: Difference between revisions
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==Primary Prevention== | ==Primary Prevention== | ||
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. | ||
* '''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> | |||
* | * '''Screening:''' The [[Probands|proband's]] GAA [[Mutation|mutations]] should be determined for diagnosis and direct further testing for family members. Mutation analysis is the gold standared when there is a family history of GSD type 2. If the mutation of glycogen storage disease type 2 is identified in a family, preimplantation genetic diagnosis may also be used. | ||
* | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} |
Revision as of 15:35, 17 January 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
There are no established measures for the primary prevention of [disease name].
OR
There are no available vaccines against [disease name].
OR
Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].
OR
[Vaccine name] vaccine is recommended for [patient population] to prevent [disease name]. Other primary prevention strategies include [strategy 1], [strategy 2], and [strategy 3].
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 standared when there is a family history of GSD type 2. If the mutation of glycogen storage disease type 2 is identified in a family, preimplantation genetic diagnosis 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.