Glycogen storage disease type I ultrasound
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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][3]
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.
- ↑ Labrune P, Trioche P, Duvaltier I, Chevalier P, Odièvre M (1997). "Hepatocellular adenomas in glycogen storage disease type I and III: a series of 43 patients and review of the literature". J Pediatr Gastroenterol Nutr. 24 (3): 276–9. PMID 9138172.