Glycogen storage disease type I ultrasound: Difference between revisions
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==Overview== | ==Overview== | ||
[[Ultrasound]] may be helpful in the diagnosis of glycogen storage disease type 1. Findings on an [[ultrasound]] suggestive of glycogen storage disease type 1 include [[hepatomegaly]], increased [[hepatic]] [[echogenicity]], and enlarged [[Kidney|kidneys]]. | [[Ultrasound]] may be helpful in the diagnosis of glycogen storage disease type 1. Findings on an [[ultrasound]] suggestive of glycogen storage disease type 1 include [[hepatomegaly]], increased [[hepatic]] [[echogenicity]], and enlarged [[Kidney|kidneys]]. [[Abdominal aortic aneurysm|Abdominal]] [[ultrasound]] should be performed at baseline and every 12-24 months to detect transformation of [[hepatocellular adenoma]] to [[hepatocellular carcinoma]]. | ||
==Ultrasound== | ==Ultrasound== | ||
Ultrasound may be helpful in the diagnosis of glycogen storage disease type 1. Findings on an ultrasound suggestive of glycogen storage disease type 1 include:<ref name="pmid11745852">{{cite journal| author=Pozzato C, Botta A, Melgara C, Fiori L, Giannì ML, Riva E| title=Sonographic findings in type I glycogen storage disease. | journal=J Clin Ultrasound | year= 2001 | volume= 29 | issue= 8 | pages= 456-61 | pmid=11745852 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11745852 }} </ref> | * Ultrasound may be helpful in the diagnosis of glycogen storage disease type 1. Findings on an ultrasound suggestive of glycogen storage disease type 1 include:<ref name="pmid11745852">{{cite journal| author=Pozzato C, Botta A, Melgara C, Fiori L, Giannì ML, Riva E| title=Sonographic findings in type I glycogen storage disease. | journal=J Clin Ultrasound | year= 2001 | volume= 29 | issue= 8 | pages= 456-61 | pmid=11745852 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11745852 }} </ref> | ||
*[[Hepatomegaly]] | **[[Hepatomegaly]] | ||
*Increased [[hepatic]] [[echogenicity]] | **Increased [[hepatic]] [[echogenicity]] | ||
*Enlarged [[Kidney|kidneys]] | **Enlarged [[Kidney|kidneys]] | ||
Abdominal ultrasound should be performed at baseline and every 12-24 months to detect transformation of hepatocellular adenoma to hepatocellular carcinoma.<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> | * [[Abdominal aortic aneurysm|Abdominal]] [[ultrasound]] should be performed at baseline and every 12-24 months to detect transformation of [[hepatocellular adenoma]] to [[hepatocellular carcinoma]].<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> | ||
==References== | ==References== | ||
Revision as of 21:18, 20 November 2017
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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
Ultrasound may be helpful in the diagnosis of glycogen storage disease type 1. Findings on an ultrasound suggestive of glycogen storage disease type 1 include hepatomegaly, increased hepatic echogenicity, and enlarged kidneys. Abdominal ultrasound should be performed at baseline and every 12-24 months to detect transformation of hepatocellular adenoma to hepatocellular carcinoma.
Ultrasound
- Ultrasound may be helpful in the diagnosis of glycogen storage disease type 1. Findings on an ultrasound suggestive of glycogen storage disease type 1 include:[1]
- Hepatomegaly
- Increased hepatic echogenicity
- Enlarged kidneys
- Abdominal ultrasound should be performed at baseline and every 12-24 months to detect transformation of hepatocellular adenoma to hepatocellular carcinoma.[2]
References
- ↑ Pozzato C, Botta A, Melgara C, Fiori L, Giannì ML, Riva E (2001). "Sonographic findings in type I glycogen storage disease". J Clin Ultrasound. 29 (8): 456–61. PMID 11745852.
- ↑ 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.