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Kidney non-tumor

Hereditary renal disease

Glycogen storage disease type I


Reviewers: Nikhil Sangle, M.D. (see Reviewers page)
Revised: 29 August 2012, last major update August 2012
Copyright: (c) 2003-2012, PathologyOutlines.com, Inc.

General
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● Autosomal recessive disorder caused by defects in the glucose-6-phosphatase complex
● Type IA: deficient activity in glucose-6-phosphatase-a (G6Pase) catalytic unit
● Type IB: defects in glucose-6-phosphate transporter protein (G6PC)
● Also G6Pase-β deficiency (Nat Rev Endocrinol 2010;6:676)

Clinical features
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● Fasting hypoglycemia, hyperuricemia, hyperlactatemia, hyperlipidemia
● Normal fertility, although high prevalence of irregular menstruation cycles and polycystic ovaries (J Inherit Metab Dis 2012;May 5 [Epub ahead of print])
● May have hypercalcemia (Turk J Pediatr 2012;54:35)
● Complications include life-threatening hypoglycemia and proteinuria progressing to renal failure (Clin J Am Soc Nephrol 2009;4:1741)

Treatment
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● Angiotensin type 1-receptor blockers (Clin Endocrinol (Oxf) 2005;63:19), lipid lowering drugs, dietary therapy (Intern Med 2010;49:1787)
● Possibly medium-chain triglycerides (Ann Nutr Metab 2010;56:225)

Electron microscopy description
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● Thickening, lamellation and glycogen deposition in glomerular basement membrane (Arch Pathol Lab Med 1988;112:271)

End of Kidney non-tumor > Hereditary renal disease > Glycogen storage disease type I

Ref Updated: 6/8/12


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