علاج متلازمة كريغلر-نجار مع فرط بيليروبين الدم غير المترافق الشديد وعدم الاستجابة الملحوظة للفينوباربيتال

References

DOI: 10.3390/ijms252011006

• Type I disease (CNS1) is characterized by severe jaundice and a high risk of neurologic sequelae (kernicterus), resulting from the complete absence of enzymatic activity; type II disease (CNS2) is a milder form with decreased enzyme activity, lower serum bilirubin levels, and little to no risk of kernicterus.
• In CNS1, there is a complete loss of UGT1A1 activity due to deletions, insertions, missense mutations, or premature stop codons, resulting in severe unconjugated hyperbilirubinemia.
• Patients with CNS1 do not respond to phenobarbital and require long-term phototherapy to keep serum bilirubin levels within safe limits.
• In contrast, CNS1 patients require immediate and sustained phototherapy to reduce the risk of kernicterus.
• TSB ≥ 30 mg/dL and a B/A ratio ≥ 1.0 mol/mol are considered absolute thresholds for neurotoxicity.