Internal Medicine

0521779407-23 CUNY1086/Karliner 0 521 77940 7 June 4, 2007 21:24

Wilson’s Disease X-Linked Hypophosphatemia 1557

■CBC & urinalysis every 2 weeks during first 2 months of penicillamine

therapy

■CBC, AST, and ALT every 2 weeks during therapy with ammonium

tetrathiomolybdate

■Annual slit-lamp examination

complications and prognosis

■Hepatic: occurs at mean age of 8–12 years; 5–30% of patients with

Wilson’s present with chronic hepatitis; consider liver transplanta-

tion for fulminant hepatitis or decompensated cirrhosis.

■Neurologic: often occurs in 2ndto 3rddecades of life; initial presen-

tation in one-third of patients

■Psychiatric: occurs in one-third of patients; requires chelation ther-

apy

■Acute intravascular hemolysis: presenting feature in up to 15%; often

seen with fulminant hepatitis; usually transient

■Renal: includes renal tubular acidosis, nephrocalcinosis, hematuria,

aminoaciduria; chelation improves renal function.

■Symptomatic arthropathy: occurs in 25–50% of all patients, resem-

bling premature osteoarthritis; 50% have osteomalacia, osteoporo-

sis, or both

■Cardiac: arrhythmias & cardiomyopathy may develop; rarely clini-

cally evident

■Cholelithiasis: pigment & cholesterol gallstones

■Malignancy: cholangiocarcinoma, HCC, and adenocarcinoma of

indeterminate origin may develop in 4–15% of patients, regardless

of treatment

Prognosis

■Generally excellent in patients compliant with therapy

X-LINKED HYPOPHOSPHATEMIA

MICHEL BAUM, MD

history & physical

■Rickets resistant to vitamin D therapy, failure to thrive, short stature,

dental abscesses, males more severely affected

tests

■Hypophosphatemia, inappropriately normal serum 1,25 dihydroxy

vitamin D