Glycogen storage disease type I natural history, complications and prognosis: Difference between revisions
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==Complications== | ==Complications== | ||
Common complications of glycogen storage disease type I include:<ref name="pmid12373567">{{cite journal |vauthors=Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP |title=Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I) |journal=Eur. J. Pediatr. |volume=161 Suppl 1 |issue= |pages=S20–34 |year=2002 |pmid=12373567 |doi=10.1007/s00431-002-0999-4 |url=}} | Common complications of glycogen storage disease type I include:<ref name="pmid12373567">{{cite journal |vauthors=Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP |title=Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I) |journal=Eur. J. Pediatr. |volume=161 Suppl 1 |issue= |pages=S20–34 |year=2002 |pmid=12373567 |doi=10.1007/s00431-002-0999-4 |url=}}</ref><ref name="KishnaniAustin2014">{{cite journal|last1=Kishnani|first1=Priya S.|last2=Austin|first2=Stephanie L.|last3=Abdenur|first3=Jose E.|last4=Arn|first4=Pamela|last5=Bali|first5=Deeksha S.|last6=Boney|first6=Anne|last7=Chung|first7=Wendy K.|last8=Dagli|first8=Aditi I.|last9=Dale|first9=David|last10=Koeberl|first10=Dwight|last11=Somers|first11=Michael J.|last12=Burns Wechsler|first12=Stephanie|last13=Weinstein|first13=David A.|last14=Wolfsdorf|first14=Joseph I.|last15=Watson|first15=Michael S.|title=Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics|journal=Genetics in Medicine|year=2014|issn=1098-3600|doi=10.1038/gim.2014.128}}</ref><ref>Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1312/ | ||
</ref><ref name="KishnaniAustin2014">{{cite journal|last1=Kishnani|first1=Priya S.|last2=Austin|first2=Stephanie L.|last3=Abdenur|first3=Jose E.|last4=Arn|first4=Pamela|last5=Bali|first5=Deeksha S.|last6=Boney|first6=Anne|last7=Chung|first7=Wendy K.|last8=Dagli|first8=Aditi I.|last9=Dale|first9=David|last10=Koeberl|first10=Dwight|last11=Somers|first11=Michael J.|last12=Burns Wechsler|first12=Stephanie|last13=Weinstein|first13=David A.|last14=Wolfsdorf|first14=Joseph I.|last15=Watson|first15=Michael S.|title=Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics|journal=Genetics in Medicine|year=2014|issn=1098-3600|doi=10.1038/gim.2014.128}}</ref> | </ref><ref name="pmid12373580">{{cite journal| author=Humbert M, Labrune P, Simonneau G| title=Severe pulmonary arterial hypertension in type 1 glycogen storage disease. | journal=Eur J Pediatr | year= 2002 | volume= 161 Suppl 1 | issue= | pages= S93-6 | pmid=12373580 | doi=10.1007/s00431-002-1012-y | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12373580 }} </ref><ref name="pmid8739968">{{cite journal| author=Kishnani P, Bengur AR, Chen YT| title=Pulmonary hypertension in glycogen storage disease type I. | journal=J Inherit Metab Dis | year= 1996 | volume= 19 | issue= 2 | pages= 213-6 | pmid=8739968 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8739968 }} </ref> | ||
*Bleeding tendency due to impaired platelet function | *Bleeding tendency due to impaired platelet function | ||
*Pancreatitis due to hypertriglyceridemia | *Pancreatitis due to hypertriglyceridemia |
Revision as of 18:34, 2 November 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Natural History
- GST type 1 presents first as an average age of 6 months (1 - 12 months).[1]
- If left untreated, glycogen storage diseases develop complications including protruding abdomen due to marked hepatomegaly (storage of glycogen and fat), short stature, truncal obesity, rounded doll-like face, and wasted muscles.
- Untreated patients usually have a cushingoid appearance due to short stature with a round face and full cheeks.[2]
Complications
Common complications of glycogen storage disease type I include:[1][2][3][4][5]
- Bleeding tendency due to impaired platelet function
- Pancreatitis due to hypertriglyceridemia
- Cholelithiasis due to hypertriglyceridemia
- Gout arthritis due to hyperuricemia
- Nephrolithiasis and nephrocalcinosis due to hyperuricemia
- Asymptomatic anemia
- Osteopenia leading to pathologic fractures
- Rickets
- Splenomegaly (particularly in GSD type 1b)
- Hepatic adenoma with potential for malignant transformation
- Anemia (especially in patients with hepatic adenoma)
- Osteoporosis
- Delayed puberty
- Pulmonary hypertension
- Polycystic ovaries
- Changes in brain function
- Pulmonary hypertension
Prognosis
- If left untreated, patients with GSD I develops complications and dies in infancy or childhood of overwhelming hypoglycemia and acidosis.
- Surviving individuals have stunted physical growth and delayed puberty due to chronically low insulin levels.
- Mental retardation as a result of severe and recurrent hypoglycemia is considered preventable with appropriate treatment.
References
- ↑ 1.0 1.1 Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP (2002). "Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I)". Eur. J. Pediatr. 161 Suppl 1: S20–34. doi:10.1007/s00431-002-0999-4. PMID 12373567.
- ↑ 2.0 2.1 Kishnani, Priya S.; Austin, Stephanie L.; Abdenur, Jose E.; Arn, Pamela; Bali, Deeksha S.; Boney, Anne; Chung, Wendy K.; Dagli, Aditi I.; Dale, David; Koeberl, Dwight; Somers, Michael J.; Burns Wechsler, Stephanie; Weinstein, David A.; Wolfsdorf, Joseph I.; Watson, Michael S. (2014). "Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics". Genetics in Medicine. doi:10.1038/gim.2014.128. ISSN 1098-3600.
- ↑ Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1312/
- ↑ Humbert M, Labrune P, Simonneau G (2002). "Severe pulmonary arterial hypertension in type 1 glycogen storage disease". Eur J Pediatr. 161 Suppl 1: S93–6. doi:10.1007/s00431-002-1012-y. PMID 12373580.
- ↑ Kishnani P, Bengur AR, Chen YT (1996). "Pulmonary hypertension in glycogen storage disease type I." J Inherit Metab Dis. 19 (2): 213–6. PMID 8739968.