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Dubin-Johnson syndrome in a neonate.
European Journal of Pediatrics
|January 1, 1979
Summary
Dubin-Johnson syndrome is a rare liver condition. In neonates, a high urinary coproporphyrin isomer I ratio, like the 97% seen in this case, aids diagnosis.
Area of Science:
- Biochemistry
- Hepatology
- Genetics
Background:
- Dubin-Johnson syndrome is a rare autosomal recessive disorder characterized by conjugated hyperbilirubinemia.
- Neonatal presentation of Dubin-Johnson syndrome is exceptionally rare, with limited reported cases.
Observation:
- A 32-day-old infant presented with clinical and biochemical findings suggestive of Dubin-Johnson syndrome.
- The patient exhibited a urinary coproporphyrin isomer I ratio of 97%.
Findings:
- Elevated urinary coproporphyrin isomer I excretion is a key diagnostic marker for Dubin-Johnson syndrome.
- The patient's parents displayed carrier-level ratios, supporting the genetic basis and diagnostic utility of this biomarker.
Implications:
- This case highlights the importance of assessing urinary coproporphyrin isomer I in neonates with suspected Dubin-Johnson syndrome.
- Early and accurate diagnosis in the neonatal period can facilitate timely management and genetic counseling.