Wilsons disease is diagnosed by:
Correct Answer: Increased urinary copper excretion
Description: ANSWER: (C) Increased urinary copper excretionREF: Harrisons Internal Medicine 17th ed> Chapter 354. Wilson Disease >Repeat from June 2010Tests for Wilson DiseaseTestUsefulnessNormal ValueIn Heterozygous CarriersIn Wilson DiseaseSerumceruloplasmin+-180-350 g/LLow in 20%Low in 90%KF rings++AbsentAbsentPresent in 99% + if neurologic or psychiatric symptoms present.Present in 30-50% in hepatic presentation and presymptomatic state24-h urine Cu+-r+0.3-O.8 mol (20-50 g)Normal to 1.3 mol (80 g)>1.6 mol (>100 g) in symptomatic patients 0.9 to >1.6 mol (60 to >100 g) in presymptomatic patientsLiver Cu++++0.3-0.8 mol/g (20-50 g) tissueNormal to 2.0 mol (125 g)>3.1 mol (>200 g) (obstructive lnrer disease can cause false-positive results)Haplotypeanalysis++++-(Siblingsonly)0 Matches1 Match2 Matches
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