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Submitted: 14 May 2008 Modified: 03 October 2017
HERDIN Record #: PCHRD051408020514

A case of wilson's disease in a Filipino family.

Ma Cristina B. Portilla,
Cherrie B. Pascual,
Jason Paul C. Monlinong,
Abdias V. Aquino

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Wilson's disease is a rare autosomal recessive inherited disease that causes toxic accumulation of copper in the body. In persons afflicted with Wilson's disease, the mechanism of copper transport and excretion by the liver is impaired and there is progressive build up of copper primarily in the liver or brain.


This paper presents a case of Wilson's disease in a family of six male and one female siblings. Three male siblings are subjects of this report, with two of them proven to have the disease. Their ceruloplasmin and free serum copper and 24-hour urine copper levels were measured. Both have abnormally low serum ceruloplasmin (2mg/dL vs. normal value of 25-63mg/ dL) and a very high 24hr urine copper levels (968 and 585ug/day vs. max. of 60ug/day for normal values). The serum free copper concentrations (0.21ug/mL or less) were below normal values of 0.7-1.4ug/mL. Their ceruloplasmin, free serum copper and 24-hour urine copper levels were monitored with drug therapy. Copper analyses of serum and urine were found effective in monitoring drug therapy. (Author)

Publication Type
Journal
Publication Sub Type
Case report
Title
St. Luke's Medical Journal
Frequency
Semi-Annual
Publication Date
July-December 2005
Volume
3
Issue
2
Page(s)
48-51
LocationLocation CodeAvailable FormatAvailability
Philippine Council for Health Research and Development Library Fulltext Print Format (Request Document)

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