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Severe protein C deficiency in newborn infants
M J Manco-Johnson1, R A Marlar, L J Jacobson
1Department of Pediatrics, University of Colorado School of Medicine, Denver 80262.
The Journal of Pediatrics
|August 1, 1988
Summary
Low protein C levels in infants may not indicate homozygous deficiency. Acquired conditions can mimic this genetic disorder, necessitating careful diagnosis through family studies and serial testing.
Area of Science:
- Neonatal Medicine
- Hematology
- Genetics
Background:
- Infants presenting with low protein C levels may initially appear to have homozygous protein C deficiency.
- However, these low levels can sometimes be an acquired condition rather than a genetic disorder.
Purpose of the Study:
- To investigate the nature of low protein C levels in infants initially suspected of homozygous protein C deficiency.
- To differentiate between inherited and acquired causes of low protein C in neonates.
Main Methods:
- Evaluated eleven infants with neonatal protein C levels suggestive of homozygous deficiency.
- Conducted family studies to assess parental carrier status.
- Performed serial protein C assays and monitored clinical course.
- Ruled out vitamin K deficiency as a cause.
Main Results:
- Family studies did not support parental carrier status for protein C deficiency.
- The clinical course of these infants was atypical for homozygous protein C deficiency.
- Protein C levels increased in all infants upon retesting.
- Six infants received heparin anticoagulation without adverse effects related to protein C levels.
- No evidence of vitamin K deficiency was found in any infant.
Conclusions:
- Low protein C levels in infants can be acquired and may mimic homozygous protein C deficiency.
- Diagnosis requires careful evaluation, including parental blood studies, delayed testing, and serial assays.
- Distinguishing acquired from inherited deficiency is crucial for appropriate management.