Glycogen storage disease type I natural history, complications and prognosis: Difference between revisions
Jump to navigation
Jump to search
| (10 intermediate revisions by the same user not shown) | |||
| Line 1: | Line 1: | ||
__NOTOC__ | __NOTOC__ | ||
{{Glycogen storage disease type I}} | {{Glycogen storage disease type I}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} {{Anmol}} | ||
==Overview== | ==Overview== | ||
Glycogen storage disease type 1 (GSD 1) presents first as an average age of 6 months (1 - 12 months). If left untreated, glycogen storage disease type 1 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]]. Common complications of glycogen storage disease type I include [[bleeding diathesis]], [[chronic renal failure]], [[hepatic adenoma]], [[anemia]], and [[inflammatory bowel disease]] (specifically in GSD type 1b). | |||
==Natural History== | ==Natural History== | ||
* | *Glycogen storage disease type 1 (GSD 1) presents first as an average age of 6 months (1 - 12 months).<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> | ||
*If left untreated, glycogen storage | *If left untreated, glycogen storage disease type 1 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.<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> | *Untreated patients usually have a cushingoid appearance due to [[short stature]] with a round face and full cheeks.<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> | ||
*[[Hepatomegaly]] improves as the age progresses. | |||
==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=}}</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/ | 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="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><ref name="pmid19596478">{{cite journal| author=Reddy SK, Austin SL, Spencer-Manzon M, Koeberl DD, Clary BM, Desai DM et al.| title=Liver transplantation for glycogen storage disease type Ia. | journal=J Hepatol | year= 2009 | volume= 51 | issue= 3 | pages= 483-90 | pmid=19596478 | doi=10.1016/j.jhep.2009.05.026 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19596478 }} </ref><ref name="pmid17637480">{{cite journal| author=Reddy SK, Kishnani PS, Sullivan JA, Koeberl DD, Desai DM, Skinner MA et al.| title=Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia. | journal=J Hepatol | year= 2007 | volume= 47 | issue= 5 | pages= 658-63 | pmid=17637480 | doi=10.1016/j.jhep.2007.05.012 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17637480 }} </ref><ref name="pmid11211215">{{cite journal| author=Kudo M| title=Hepatocellular adenoma in type Ia glycogen storage disease. | journal=J Gastroenterol | year= 2001 | volume= 36 | issue= 1 | pages= 65-6 | pmid=11211215 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11211215 }} </ref><ref name="pmid4350560">{{cite journal| author=Czapek EE, Deykin D, Salzman EW| title=Platelet dysfunction in glycogen storage disease type I. | journal=Blood | year= 1973 | volume= 41 | issue= 2 | pages= 235-47 | pmid=4350560 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4350560 }} </ref><ref name="pmid16435187">{{cite journal| author=Mühlhausen C, Schneppenheim R, Budde U, Merkel M, Muschol N, Ullrich K et al.| title=Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia. | journal=J Inherit Metab Dis | year= 2005 | volume= 28 | issue= 6 | pages= 945-50 | pmid=16435187 | doi=10.1007/s10545-005-0184-9 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16435187 }} </ref><ref name="pmid12393428">{{cite journal| author=Weinstein DA, Roy CN, Fleming MD, Loda MF, Wolfsdorf JI, Andrews NC| title=Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease. | journal=Blood | year= 2002 | volume= 100 | issue= 10 | pages= 3776-81 | pmid=12393428 | doi=10.1182/blood-2002-04-1260 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12393428 }} </ref><ref name="MinarichKirpich2012">{{cite journal|last1=Minarich|first1=Laurie A.|last2=Kirpich|first2=Alexander|last3=Fiske|first3=Laurie M.|last4=Weinstein|first4=David A.|title=Bone mineral density in glycogen storage disease type Ia and Ib|journal=Genetics in Medicine|volume=14|issue=8|year=2012|pages=737–741|issn=1098-3600|doi=10.1038/gim.2012.36}}</ref><ref name="pmid8319728">{{cite journal| author=Reitsma-Bierens WC| title=Renal complications in glycogen storage disease type I. | journal=Eur J Pediatr | year= 1993 | volume= 152 Suppl 1 | issue= | pages= S60-2 | pmid=8319728 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8319728 }} </ref><ref name="pmid11241046">{{cite journal| author=Weinstein DA, Somers MJ, Wolfsdorf JI| title=Decreased urinary citrate excretion in type 1a glycogen storage disease. | journal=J Pediatr | year= 2001 | volume= 138 | issue= 3 | pages= 378-82 | pmid=11241046 | doi=10.1067/mpd.2001.111322 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11241046 }} </ref><ref name="pmid12373572">{{cite journal| author=Labrune P| title=Glycogen storage disease type I: indications for liver and/or kidney transplantation. | journal=Eur J Pediatr | year= 2002 | volume= 161 Suppl 1 | issue= | pages= S53-5 | pmid=12373572 | doi=10.1007/s00431-002-1004-y | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12373572 }} </ref><ref name="pmid22562700">{{cite journal| author=Sechi A, Deroma L, Lapolla A, Paci S, Melis D, Burlina A et al.| title=Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study. | journal=J Inherit Metab Dis | year= 2013 | volume= 36 | issue= 1 | pages= 83-9 | pmid=22562700 | doi=10.1007/s10545-012-9490-1 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22562700 }} </ref><ref name="pmid24201678">{{cite journal| author=Austin SL, El-Gharbawy AH, Kasturi VG, James A, Kishnani PS| title=Menorrhagia in patients with type I glycogen storage disease. | journal=Obstet Gynecol | year= 2013 | volume= 122 | issue= 6 | pages= 1246-54 | pmid=24201678 | doi=10.1097/01.AOG.0000435451.86108.82 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24201678 }} </ref><ref name="pmid7634500">{{cite journal| author=Lee PJ, Patel A, Hindmarsh PC, Mowat AP, Leonard JV| title=The prevalence of polycystic ovaries in the hepatic glycogen storage diseases: its association with hyperinsulinism. | journal=Clin Endocrinol (Oxf) | year= 1995 | volume= 42 | issue= 6 | pages= 601-6 | pmid=7634500 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7634500 }} </ref><ref name="RoeThomas1986">{{cite journal|last1=Roe|first1=Thomas F.|last2=Thomas|first2=Daniel W.|last3=Gilsanz|first3=Vicente|last4=Isaacs|first4=Hart|last5=Atkinson|first5=James B.|title=Inflammatory bowel disease in glycogen storage disease type Ib|journal=The Journal of Pediatrics|volume=109|issue=1|year=1986|pages=55–59|issn=00223476|doi=10.1016/S0022-3476(86)80572-8}}</ref><ref name="pmid8319726">{{cite journal| author=Smit GP| title=The long-term outcome of patients with glycogen storage disease type Ia. | journal=Eur J Pediatr | year= 1993 | volume= 152 Suppl 1 | issue= | pages= S52-5 | pmid=8319726 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8319726 }} </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><ref name="pmid19596478">{{cite journal| author=Reddy SK, Austin SL, Spencer-Manzon M, Koeberl DD, Clary BM, Desai DM et al.| title=Liver transplantation for glycogen storage disease type Ia. | journal=J Hepatol | year= 2009 | volume= 51 | issue= 3 | pages= 483-90 | pmid=19596478 | doi=10.1016/j.jhep.2009.05.026 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19596478 }} </ref><ref name="pmid17637480">{{cite journal| author=Reddy SK, Kishnani PS, Sullivan JA, Koeberl DD, Desai DM, Skinner MA et al.| title=Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia. | journal=J Hepatol | year= 2007 | volume= 47 | issue= 5 | pages= 658-63 | pmid=17637480 | doi=10.1016/j.jhep.2007.05.012 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17637480 }} </ref><ref name="pmid11211215">{{cite journal| author=Kudo M| title=Hepatocellular adenoma in type Ia glycogen storage disease. | journal=J Gastroenterol | year= 2001 | volume= 36 | issue= 1 | pages= 65-6 | pmid=11211215 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11211215 }} </ref><ref name="pmid4350560">{{cite journal| author=Czapek EE, Deykin D, Salzman EW| title=Platelet dysfunction in glycogen storage disease type I. | journal=Blood | year= 1973 | volume= 41 | issue= 2 | pages= 235-47 | pmid=4350560 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4350560 }} </ref><ref name="pmid16435187">{{cite journal| author=Mühlhausen C, Schneppenheim R, Budde U, Merkel M, Muschol N, Ullrich K et al.| title=Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia. | journal=J Inherit Metab Dis | year= 2005 | volume= 28 | issue= 6 | pages= 945-50 | pmid=16435187 | doi=10.1007/s10545-005-0184-9 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16435187 }} </ref><ref name="pmid12393428">{{cite journal| author=Weinstein DA, Roy CN, Fleming MD, Loda MF, Wolfsdorf JI, Andrews NC| title=Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease. | journal=Blood | year= 2002 | volume= 100 | issue= 10 | pages= 3776-81 | pmid=12393428 | doi=10.1182/blood-2002-04-1260 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12393428 }} </ref><ref name="MinarichKirpich2012">{{cite journal|last1=Minarich|first1=Laurie A.|last2=Kirpich|first2=Alexander|last3=Fiske|first3=Laurie M.|last4=Weinstein|first4=David A.|title=Bone mineral density in glycogen storage disease type Ia and Ib|journal=Genetics in Medicine|volume=14|issue=8|year=2012|pages=737–741|issn=1098-3600|doi=10.1038/gim.2012.36}}</ref><ref name="pmid8319728">{{cite journal| author=Reitsma-Bierens WC| title=Renal complications in glycogen storage disease type I. | journal=Eur J Pediatr | year= 1993 | volume= 152 Suppl 1 | issue= | pages= S60-2 | pmid=8319728 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8319728 }} </ref><ref name="pmid11241046">{{cite journal| author=Weinstein DA, Somers MJ, Wolfsdorf JI| title=Decreased urinary citrate excretion in type 1a glycogen storage disease. | journal=J Pediatr | year= 2001 | volume= 138 | issue= 3 | pages= 378-82 | pmid=11241046 | doi=10.1067/mpd.2001.111322 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11241046 }} </ref><ref name="pmid12373572">{{cite journal| author=Labrune P| title=Glycogen storage disease type I: indications for liver and/or kidney transplantation. | journal=Eur J Pediatr | year= 2002 | volume= 161 Suppl 1 | issue= | pages= S53-5 | pmid=12373572 | doi=10.1007/s00431-002-1004-y | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12373572 }} </ref><ref name="pmid22562700">{{cite journal| author=Sechi A, Deroma L, Lapolla A, Paci S, Melis D, Burlina A et al.| title=Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study. | journal=J Inherit Metab Dis | year= 2013 | volume= 36 | issue= 1 | pages= 83-9 | pmid=22562700 | doi=10.1007/s10545-012-9490-1 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22562700 }} </ref><ref name="pmid24201678">{{cite journal| author=Austin SL, El-Gharbawy AH, Kasturi VG, James A, Kishnani PS| title=Menorrhagia in patients with type I glycogen storage disease. | journal=Obstet Gynecol | year= 2013 | volume= 122 | issue= 6 | pages= 1246-54 | pmid=24201678 | doi=10.1097/01.AOG.0000435451.86108.82 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24201678 }} </ref><ref name="pmid7634500">{{cite journal| author=Lee PJ, Patel A, Hindmarsh PC, Mowat AP, Leonard JV| title=The prevalence of polycystic ovaries in the hepatic glycogen storage diseases: its association with hyperinsulinism. | journal=Clin Endocrinol (Oxf) | year= 1995 | volume= 42 | issue= 6 | pages= 601-6 | pmid=7634500 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7634500 }} </ref><ref name="RoeThomas1986">{{cite journal|last1=Roe|first1=Thomas F.|last2=Thomas|first2=Daniel W.|last3=Gilsanz|first3=Vicente|last4=Isaacs|first4=Hart|last5=Atkinson|first5=James B.|title=Inflammatory bowel disease in glycogen storage disease type Ib|journal=The Journal of Pediatrics|volume=109|issue=1|year=1986|pages=55–59|issn=00223476|doi=10.1016/S0022-3476(86)80572-8}}</ref><ref name="pmid8319726">{{cite journal| author=Smit GP| title=The long-term outcome of patients with glycogen storage disease type Ia. | journal=Eur J Pediatr | year= 1993 | volume= 152 Suppl 1 | issue= | pages= S52-5 | pmid=8319726 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8319726 }} </ref><ref name="pmid17307551">{{cite journal| author=Melis D, Pivonello R, Parenti G, Della Casa R, Salerno M, Lombardi G et al.| title=Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I. | journal=J Pediatr | year= 2007 | volume= 150 | issue= 3 | pages= 300-5, 305.e1 | pmid=17307551 | doi=10.1016/j.jpeds.2006.11.056 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17307551 }} </ref> | ||
*Bleeding | *[[Bleeding diathesis]] | ||
** | **[[Epistaxis]] | ||
** | **[[Easy bruising]] | ||
*Chronic renal failure requiring renal transplant | **Excessive [[bleeding]] during [[surgical]] procedures | ||
*Delayed puberty | **[[Menorrhagia]] | ||
*Gout arthritis due to hyperuricemia | *[[Chronic renal failure]] requiring [[renal transplant]] | ||
*Hepatic adenoma with potential for malignant transformation into hepatocellular carcinoma | *[[Delayed puberty]] | ||
*Hypertriglyceridemia leading to | *[[Gout arthritis]] due to [[hyperuricemia]] | ||
**Acute pancreatitis | *[[Hepatic adenoma]] with potential for [[malignant]] transformation into [[hepatocellular carcinoma]] | ||
**Cholelithiasis | *[[Hypertriglyceridemia]] leading to | ||
*Inflammatory bowel disease (particularly GSD type 1b) | **[[Acute pancreatitis]] | ||
* | **[[Cholelithiasis]] | ||
*[[Inflammatory bowel disease]] (particularly GSD type 1b) | |||
*Nephromegaly | *[[Nephrolithiasis]] and [[nephrocalcinosis]] due to [[hyperuricemia]] | ||
*Osteopenia leading to pathologic fractures | *[[Nephromegaly]] | ||
*Osteoporosis | *[[Osteopenia]] leading to pathologic fractures | ||
*Polycystic ovaries | *[[Osteoporosis]] | ||
*Pulmonary hypertension | *[[Polycystic ovaries]] | ||
*[[Pulmonary hypertension]] | |||
*Refractory anemia (especially in patients with hepatic adenoma) | *Refractory [[anemia]] (especially in patients with [[hepatic adenoma]]) | ||
*Rickets | *[[Rickets]] | ||
*Splenomegaly (particularly in GSD type 1b) | *[[Splenomegaly]] (particularly in GSD type 1b) | ||
*[[Systemic hypertension]] | |||
*[[Thyroid]] [[autoimmunity]] and [[hypothyroidism]] (particularly in GSD type 1b) | |||
==Prognosis== | ==Prognosis== | ||
*If left untreated, patients with GSD I develops complications and dies in infancy or childhood of overwhelming [[hypoglycemia]] and [[acidosis]]. | *If left untreated, patients with GSD I develops complications and dies in infancy or childhood of overwhelming [[hypoglycemia]] and [[acidosis]].<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> | ||
*Surviving individuals have stunted physical growth and delayed puberty due to chronically low insulin levels. | *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. | *[[Mental retardation]] as a result of severe and recurrent [[hypoglycemia]] is considered preventable with appropriate treatment. | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
[[Category:Endocrinology]] | [[Category:Endocrinology]] | ||
[[Category:Hepatology]] | [[Category:Hepatology]] | ||
[[Category:Gastroenterology]] | [[Category:Gastroenterology]] | ||
[[Category:Pediatrics]] | |||
[[Category:Up-To-Date]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Metabolic disorders]] | |||
{{WS}} | {{WS}} | ||
{{WH}} | {{WH}} | ||
Latest revision as of 14:34, 22 December 2017
|
Glycogen storage disease type I Microchapters |
|
Differentiating Glycogen storage disease type I from other Diseases |
|---|
|
Diagnosis |
|
Treatment |
|
Case Studies |
|
Glycogen storage disease type I natural history, complications and prognosis On the Web |
|
American Roentgen Ray Society Images of Glycogen storage disease type I natural history, complications and prognosis |
|
FDA on Glycogen storage disease type I natural history, complications and prognosis |
|
CDC on Glycogen storage disease type I natural history, complications and prognosis |
|
Glycogen storage disease type I natural history, complications and prognosis in the news |
|
Blogs on Glycogen storage disease type I natural history, complications and prognosis |
|
Directions to Hospitals Treating Glycogen storage disease type I |
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 1 (GSD 1) presents first as an average age of 6 months (1 - 12 months). If left untreated, glycogen storage disease type 1 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. Common complications of glycogen storage disease type I include bleeding diathesis, chronic renal failure, hepatic adenoma, anemia, and inflammatory bowel disease (specifically in GSD type 1b).
Natural History
- Glycogen storage disease type 1 (GSD 1) presents first as an average age of 6 months (1 - 12 months).[1]
- If left untreated, glycogen storage disease type 1 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]
- Hepatomegaly improves as the age progresses.
Complications
Common complications of glycogen storage disease type I include:[1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21]
- Bleeding diathesis
- Epistaxis
- Easy bruising
- Excessive bleeding during surgical procedures
- Menorrhagia
- Chronic renal failure requiring renal transplant
- Delayed puberty
- Gout arthritis due to hyperuricemia
- Hepatic adenoma with potential for malignant transformation into hepatocellular carcinoma
- Hypertriglyceridemia leading to
- Inflammatory bowel disease (particularly GSD type 1b)
- Nephrolithiasis and nephrocalcinosis due to hyperuricemia
- Nephromegaly
- Osteopenia leading to pathologic fractures
- Osteoporosis
- Polycystic ovaries
- Pulmonary hypertension
- Refractory anemia (especially in patients with hepatic adenoma)
- Rickets
- Splenomegaly (particularly in GSD type 1b)
- Systemic hypertension
- Thyroid autoimmunity and hypothyroidism (particularly in GSD type 1b)
Prognosis
- If left untreated, patients with GSD I develops complications and dies in infancy or childhood of overwhelming hypoglycemia and acidosis.[1][2]
- 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 1.2 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 2.2 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.
- ↑ Reddy SK, Austin SL, Spencer-Manzon M, Koeberl DD, Clary BM, Desai DM; et al. (2009). "Liver transplantation for glycogen storage disease type Ia". J Hepatol. 51 (3): 483–90. doi:10.1016/j.jhep.2009.05.026. PMID 19596478.
- ↑ Reddy SK, Kishnani PS, Sullivan JA, Koeberl DD, Desai DM, Skinner MA; et al. (2007). "Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia". J Hepatol. 47 (5): 658–63. doi:10.1016/j.jhep.2007.05.012. PMID 17637480.
- ↑ Kudo M (2001). "Hepatocellular adenoma in type Ia glycogen storage disease". J Gastroenterol. 36 (1): 65–6. PMID 11211215.
- ↑ Czapek EE, Deykin D, Salzman EW (1973). "Platelet dysfunction in glycogen storage disease type I." Blood. 41 (2): 235–47. PMID 4350560.
- ↑ Mühlhausen C, Schneppenheim R, Budde U, Merkel M, Muschol N, Ullrich K; et al. (2005). "Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia". J Inherit Metab Dis. 28 (6): 945–50. doi:10.1007/s10545-005-0184-9. PMID 16435187.
- ↑ Weinstein DA, Roy CN, Fleming MD, Loda MF, Wolfsdorf JI, Andrews NC (2002). "Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease". Blood. 100 (10): 3776–81. doi:10.1182/blood-2002-04-1260. PMID 12393428.
- ↑ Minarich, Laurie A.; Kirpich, Alexander; Fiske, Laurie M.; Weinstein, David A. (2012). "Bone mineral density in glycogen storage disease type Ia and Ib". Genetics in Medicine. 14 (8): 737–741. doi:10.1038/gim.2012.36. ISSN 1098-3600.
- ↑ Reitsma-Bierens WC (1993). "Renal complications in glycogen storage disease type I." Eur J Pediatr. 152 Suppl 1: S60–2. PMID 8319728.
- ↑ Weinstein DA, Somers MJ, Wolfsdorf JI (2001). "Decreased urinary citrate excretion in type 1a glycogen storage disease". J Pediatr. 138 (3): 378–82. doi:10.1067/mpd.2001.111322. PMID 11241046.
- ↑ Labrune P (2002). "Glycogen storage disease type I: indications for liver and/or kidney transplantation". Eur J Pediatr. 161 Suppl 1: S53–5. doi:10.1007/s00431-002-1004-y. PMID 12373572.
- ↑ Sechi A, Deroma L, Lapolla A, Paci S, Melis D, Burlina A; et al. (2013). "Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study". J Inherit Metab Dis. 36 (1): 83–9. doi:10.1007/s10545-012-9490-1. PMID 22562700.
- ↑ Austin SL, El-Gharbawy AH, Kasturi VG, James A, Kishnani PS (2013). "Menorrhagia in patients with type I glycogen storage disease". Obstet Gynecol. 122 (6): 1246–54. doi:10.1097/01.AOG.0000435451.86108.82. PMID 24201678.
- ↑ Lee PJ, Patel A, Hindmarsh PC, Mowat AP, Leonard JV (1995). "The prevalence of polycystic ovaries in the hepatic glycogen storage diseases: its association with hyperinsulinism". Clin Endocrinol (Oxf). 42 (6): 601–6. PMID 7634500.
- ↑ Roe, Thomas F.; Thomas, Daniel W.; Gilsanz, Vicente; Isaacs, Hart; Atkinson, James B. (1986). "Inflammatory bowel disease in glycogen storage disease type Ib". The Journal of Pediatrics. 109 (1): 55–59. doi:10.1016/S0022-3476(86)80572-8. ISSN 0022-3476.
- ↑ Smit GP (1993). "The long-term outcome of patients with glycogen storage disease type Ia". Eur J Pediatr. 152 Suppl 1: S52–5. PMID 8319726.
- ↑ Melis D, Pivonello R, Parenti G, Della Casa R, Salerno M, Lombardi G; et al. (2007). "Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I." J Pediatr. 150 (3): 300–5, 305.e1. doi:10.1016/j.jpeds.2006.11.056. PMID 17307551.