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]]. | ||
==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> | ||
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*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> | |||
==References== | ==References== |
Revision as of 21:17, 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.
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.