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Studies of mass infant screening for Wilson disease by urinary ceruloplasmin

Y Kinoshita1, Y Yamakami, Y Mori

  • 1Kanagawa Health Service Association, Yokohama, Japan.

The Southeast Asian Journal of Tropical Medicine and Public Health
|June 13, 2001
PubMed

Insights

A 4-year-old boy diagnosed with Wilson disease (WD) presented with low ceruloplasmin (CP) levels in both urine and blood. This case suggests that very low urinary CP may be a potential indicator in Wilson disease diagnosis.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Wilson disease (WD) is a genetic disorder of copper metabolism.
  • Ceruloplasmin (CP) levels are typically altered in WD, but urinary CP concentrations are not well-established diagnostic markers.

Purpose of the Study:

  • To investigate the urinary ceruloplasmin (CP) levels in a pediatric patient diagnosed with Wilson disease (WD).
  • To explore the potential correlation between blood and urinary CP levels in WD.

Main Methods:

  • Screening of a pediatric cohort.
  • Measurement of urinary and blood ceruloplasmin (CP) levels.
  • Genetic analysis for Wilson disease (WD) diagnosis.

Main Results:

  • A 4-year-old boy diagnosed with WD exhibited low urinary CP (17 ng/mg-creatinine) and blood CP (0.6 mg/dl).
  • Urinary copper levels were within the normal range despite low CP.
  • No significant correlation was found between blood and urinary CP levels.

Conclusions:

  • Very low urinary ceruloplasmin (CP) may be associated with Wilson disease (WD).
  • This finding highlights the potential utility of monitoring urinary CP in WD diagnosis, even when blood levels are also low.

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