Glycogen storage disease type II classification: Difference between revisions
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==Classification== | ==Classification== | ||
Glycogen storage disease type II may be classified according to the age of onset and presence of [[cardiomegaly]] into 2 subtypes: | Glycogen storage disease type II may be classified according to the age of onset and presence of [[cardiomegaly]] into 2 subtypes:<ref>Leslie N, Bailey L. Pompe Disease. 2007 Aug 31 [Updated 2017 May 11]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1261/</ref><ref name="pmid17915568">{{cite journal| author=Di Rocco M, Buzzi D, Tarò M| title=Glycogen storage disease type II: clinical overview. | journal=Acta Myol | year= 2007 | volume= 26 | issue= 1 | pages= 42-4 | pmid=17915568 | doi= | pmc=2949314 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17915568 }} </ref><ref name="pmid16737883">{{cite journal| author=Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D et al.| title=A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. | journal=J Pediatr | year= 2006 | volume= 148 | issue= 5 | pages= 671-676 | pmid=16737883 | doi=10.1016/j.jpeds.2005.11.033 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16737883 }} </ref><ref name="pmid12897283">{{cite journal| author=van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT et al.| title=The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. | journal=Pediatrics | year= 2003 | volume= 112 | issue= 2 | pages= 332-40 | pmid=12897283 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12897283 }} </ref><ref name="pmid10931430">{{cite journal| author=Slonim AE, Bulone L, Ritz S, Goldberg T, Chen A, Martiniuk F| title=Identification of two subtypes of infantile acid maltase deficiency. | journal=J Pediatr | year= 2000 | volume= 137 | issue= 2 | pages= 283-5 | pmid=10931430 | doi=10.1067/mpd.2000.107112 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10931430 }} </ref> | ||
{| | {| | ||
! style="background: #4479BA; text-align: center;" |{{fontcolor|#FFF|Type of GSD type 2}} | ! colspan="2" style="background: #4479BA; text-align: center;" |{{fontcolor|#FFF|Type of GSD type 2}} | ||
! style="background: #4479BA; text-align: center;" |{{fontcolor|#FFF|Age of onset}} | ! style="background: #4479BA; text-align: center;" |{{fontcolor|#FFF|Age of onset}} | ||
|- | |- | ||
| style="background: #DCDCDC; text-align: center;" |'''Infantile-onset Pompe disease (IOPD)''' | | rowspan="2" style="background: #DCDCDC; text-align: center;" |'''Infantile-onset Pompe disease (IOPD)''' | ||
| style="background: #F5F5F5;" |Age of onset before 12 months with [[cardiomyopathy]] | | style="background: #DCDCDC; text-align: center;" |'''Classic form''' | ||
| rowspan="2" style="background: #F5F5F5;" |Age of onset before 12 months with [[cardiomyopathy]] | |||
|- | |- | ||
| style="background: #DCDCDC; text-align: center;" |'''Late-onset Pompe disease (LOPD)''' | | style="background: #DCDCDC; text-align: center;" |'''Non-Classic form''' | ||
| style="background: #F5F5F5;" | | |- | ||
| rowspan="2" style="background: #DCDCDC; text-align: center;" |'''Late-onset Pompe disease (LOPD)''' | |||
| style="background: #DCDCDC; text-align: center;" |'''Childhood/Juvenile form''' | |||
| rowspan="2" style="background: #F5F5F5;" | | |||
*Age of onset before 12 months without [[cardiomyopathy]] | *Age of onset before 12 months without [[cardiomyopathy]] | ||
*Age of onset after 12 months | *Age of onset after 12 months | ||
|- | |||
| style="background: #DCDCDC; text-align: center;" |'''Adult form''' | |||
|} | |} | ||
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[[Category:Endocrinology]] | [[Category:Endocrinology]] | ||
[[Category:Hepatology]] | [[Category:Hepatology]] | ||
[[Category:Gastroenterology]] | |||
[[Category:Pediatrics]] | |||
[[Category:Up-To-Date]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Metabolic disorders]] | |||
{{WS}} | {{WS}} | ||
{{WH}} | {{WH}} |
Latest revision as of 19:45, 23 January 2018
Glycogen storage disease type II Microchapters |
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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
Glycogen storage disease type II may be classified according to the age of onset and presence of cardiomegaly into 2 subtypes including infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD).
Classification
Glycogen storage disease type II may be classified according to the age of onset and presence of cardiomegaly into 2 subtypes:[1][2][3][4][5]
Type of GSD type 2 | Age of onset | |
---|---|---|
Infantile-onset Pompe disease (IOPD) | Classic form | Age of onset before 12 months with cardiomyopathy |
Non-Classic form | ||
Late-onset Pompe disease (LOPD) | Childhood/Juvenile form |
|
Adult form |
References
- ↑ Leslie N, Bailey L. Pompe Disease. 2007 Aug 31 [Updated 2017 May 11]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1261/
- ↑ Di Rocco M, Buzzi D, Tarò M (2007). "Glycogen storage disease type II: clinical overview". Acta Myol. 26 (1): 42–4. PMC 2949314. PMID 17915568.
- ↑ Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D; et al. (2006). "A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease". J Pediatr. 148 (5): 671–676. doi:10.1016/j.jpeds.2005.11.033. PMID 16737883.
- ↑ van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT; et al. (2003). "The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature". Pediatrics. 112 (2): 332–40. PMID 12897283.
- ↑ Slonim AE, Bulone L, Ritz S, Goldberg T, Chen A, Martiniuk F (2000). "Identification of two subtypes of infantile acid maltase deficiency". J Pediatr. 137 (2): 283–5. doi:10.1067/mpd.2000.107112. PMID 10931430.