Glycogen storage disease type I natural history, complications and prognosis: Difference between revisions
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*Osteopenia leading to pathologic fractures | *Osteopenia leading to pathologic fractures | ||
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*Hepatic adenoma | |||
==Prognosis== | ==Prognosis== |
Revision as of 18:11, 31 October 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).
- If left untreated, patients with GSD I 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.
Complications
Common complications of glycogen storage disease type I include:[1]
- Protruding abdomen due to marked hepatomegaly (storage of glycogen and fat)
- Short stature
- Truncal obesity
- Rounded doll-like face
- Wasted muscles
- 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
Prognosis
With diagnosis before serious harm occurs, prompt reversal of acidotic episodes, and appropriate long-term treatment, most children will be healthy. With exceptions and qualifications, adult health and life span may also be fairly good, although lack of effective treatment before the mid-1970s has limited our long-term information.
References
- ↑ 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.