-
Journal of Gastroenterology and... Apr 2020Crigler-Najjar syndrome (CNS) results from biallelic mutations of UGT1A1 causing partial or total loss of uridine 5'-diphosphate glucuronyltransferase activity leading...
BACKGROUND AND AIM
Crigler-Najjar syndrome (CNS) results from biallelic mutations of UGT1A1 causing partial or total loss of uridine 5'-diphosphate glucuronyltransferase activity leading to unconjugated hyperbilirubinemia and its attendant risk for irreversible neurological injury (kernicterus). CNS is exceedingly rare and has been only partially characterized through relatively small studies, each comprising between two and 57 patients.
METHODS
A systematic literature review was conducted to consolidate data on the patient, caregiver, and societal burden of CNS.
RESULTS
Twenty-eight articles on clinical aspects of CNS were identified, but no published data on its humanistic or economic burden were found. In patients with complete UGT1A1 deficiency (type 1 CNS [CNS-I]), unconjugated bilirubin levels increase 3-6 mg/dL/day during the newborn period and reach neurologically dangerous levels between 5 and 14 days of age. Phototherapy is the mainstay of treatment but poses significant challenges to patients and their families. Despite consistent phototherapy, patients with CNS-I have worsening hyperbilirubinemia with advancing age. Liver transplantation is the only definitive therapy for CNS-I and is increasingly associated with excellent long-term survival but also incurs high costs, medical and surgical morbidities, and risks of immunosuppression.
CONCLUSIONS
Crigler-Najjar syndrome is associated with a substantial burden, even with existing standards of care. The development of novel disease-modifying therapies has the potential to reduce disease burden and improve the lives of CNS patients and their families.
Topics: Bilirubin; Cost of Illness; Crigler-Najjar Syndrome; Female; Gene Deletion; Glucuronosyltransferase; Humans; Hyperbilirubinemia; Infant, Newborn; Liver Transplantation; Male; Phototherapy; Rare Diseases
PubMed: 31495946
DOI: 10.1111/jgh.14853 -
Fetal Diagnosis and Therapy 2009To report a case of maternal Crigler-Najjar syndrome (CNS) type II in pregnancy, systematically review the literature for similar case reports, and to evaluate whether... (Review)
Review
OBJECTIVE
To report a case of maternal Crigler-Najjar syndrome (CNS) type II in pregnancy, systematically review the literature for similar case reports, and to evaluate whether pregnancy is safe in patients with the disease. Data sources included the PubMed and up to date databases.
RESULTS
A 37-year-old mother with CNS type II was treated with phenobarbital during her pregnancy and her bilirubin levels were monitored. Her newborn had mild direct hyperbilirubinemia, did not require any treatment and his postnatal follow-up showed normal growth and development as well as normal hearing.
CONCLUSION
CNS type II is rare, and only a few pregnancies with this condition have been reported. Maternal treatment with phenobarbital lowers the unconjugated bilirubin and avoids fetal and newborn sequelae.
Topics: Adult; Bilirubin; Crigler-Najjar Syndrome; Female; Hearing Disorders; Humans; Infant; Infant, Newborn; Kernicterus; Male; Phenobarbital; Pregnancy; Pregnancy Complications; Pregnancy Outcome
PubMed: 19752526
DOI: 10.1159/000238122