Internal Medicine

0521779407-08 CUNY1086/Karliner 0 521 77940 7 June 13, 2007 7:47

638 Glycogen Storage Disease Goiter

specific therapy

■Frequently none

➣Unavailable in most forms of fatal disease

Enzyme replacement therapy (II)

➣Unnecessary in most forms of mild disease

■Allopurinol (I, VII)

■Colony-stimulating factor (Ib)

■Liver transplantation in selected cases (I, IV)

follow-up

■Depends on type and severity

➣Frequent for hypoglycemic forms until stable (0, I, III, VI, IX)

➣Infrequent when restricted to mild and non-progressive muscle

symptoms (adults with V, VII)

➣Annual imaging and alpha-fetoprotein if multiple hepatic ade-

nomas (I)

complications and prognosis

Complications

■Rarely, acute renal failure from rhabdomyolysis (V )

■Commonly, chronic renal disease from focal segmental glomeru-

losclerosis (I)

Prognosis

■Some types are fatal (II, IV)

■Some types have a fair prognosis with careful management (I)

■Some types have a good prognosis with little intervention by adult-

hood (0, III, V–VII)

Goiter.............................................

LAWRENCE CRAPO, MD, PhD

history & physical

History

■Personal/family history of goiter

■Medications: lithium, amiodarone, kelp, cough syrup

■Pregnancy

■Residence in region of iodine deficiency