Multiple plasma exchanges successfully maintain a young adult patient with Crigler-Najjar syndrome type I.
Plasmapheresis has been shown to reduce total and free bilirubin levels in acute exacerbations of Crigler-Najjar syndrome, type I (CNS-TI), but its effectiveness in long-term management has not been reported. An 18-year-old (yo) male with CNS-TI, who required prolonged daily high-intensity phototherapy to prevent cerebral nervous system symptoms, developed increasingly frequent bouts of confusion, nausea, and vomiting associated with free bilirubin concentrations (fbcs) greater than 10-15 nmol/L. Pending consideration of orthotopic liver transplantation, plasma exchange (approximately 3 liters per procedure) was begun in 12/84 using the IBM/COBE 2997 with 5% albumin as replacement fluid. Frequency of treatments was guided by twice weekly fbcs, with plasma exchange for fbc greater than 10-15 nmol/L. Pre-exchange and postexchange fbcs ranged from 27.5 to 11 nmol/L and 9.2 to 2 nmol/L, respectively. Seventy-two exchanges were performed over a 28 month period. Irreversible CNS damage did not occur, and the patient underwent successful liver transplantation in April of 1987, with complete correction of his metabolic disorder. He remains well 18 months following transplantation.
Department of Pathology and Medicine, Washington University Medical School, St. Louis.
P
P
Ahmed
A
A
Pratt
V J
VJ
Land
M W
MW
Flye
H
H
Chaplin
D000293:Adolescent; D001663:Bilirubin / Q000097:blood; D003414:Crigler-Najjar Syndrome / Q000097:blood / Q000628:therapy*; D006801:Humans; D006933:Hyperbilirubinemia, Hereditary / Q000628:therapy*; D008297:Male; D010951:Plasma Exchange
D001663:Bilirubin