जब फोटोथेरेपी बिलीरुबिन को नियंत्रित करने में विफल हो जाती है: कर्निकटेरस के उच्च जोखिम के साथ गंभीर अनकंजुगेटेड हाइपरबिलिरुबिनेमिया

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 CNS2, phenobarbital typically lowers serum bilirubin levels by about 25%, while CNS1 patients show no significant response.
• After phototherapy became less effective at age 16, the patient was treated with plasmapheresis combined with an anion-exchange resin.
• This highlights the importance of initiating medical treatments such as plasmapheresis and phototherapy at the first signs of bilirubin encephalopathy and considering early LT to prevent further neurological damage.
• This method removed approximately 98% of the daily bilirubin production, temporarily reducing bilirubin levels.