Hepatology 1996 Aug;24(2):311-5

Current therapy for Crigler-Najjar syndrome type 1: report of a world registry

van der Veere CN, Sinaasappel M, McDonagh AF, Rosenthal P, Labrune P, Odievre M,
Fevery J, Otte JB, McClean P, Burk G, Masakowski V, Sperl W, Mowat AP, Vergani
GM, Heller K, Wilson JP, Shepherd R, Jansen PL
University Hospital Groningen, Department of Pediatrics, The Netherlands
Abstract
This study represents a multicenter survey on the management of patients with
Crigler-Najjar syndrome (CNS) type 1. The aim of the survey was to find guiding
principles for physicians in the care of these patients. Fifty-seven patients
were included. At the time of inclusion, 21 patients had received a liver
transplant (37%). The average age at transplantation was 9.1 +/- 6.9 years
(range, 1-23 years); the age of the patients who had not been transplanted at
the time of inclusion was 6.9 +/- 6.0 years (range, 0-23 years). Brain damage
had developed in 15 patients (26%). Five patients died, and 10 are alive with
some degree of mental or physical handicap. In 2 patients, ages 22 and 23 years,
early signs of bilirubin encephalopathy could be reversed, in 1 by prompt
medical intervention followed by liver transplantation and in the other by
prompt liver transplantation. Seven patients underwent transplantation with some
degree of brain damage at the time of the surgery; 1 of these died after
retransplantation, 2 improved neurologically, and 4 remained neurologically
impaired. The age of 8 patients with and 13 without brain damage at or before
transplantation was 14.3 +/- 5.9 and 5.9 +/- 5.4 years (P < .01), respectively.
Therapy of CNS type 1 consists of phototherapy (12 h/d), followed by liver
transplantation. Phototherapy, although initially very effective, is socially
inconvenient and becomes less efficient in the older age group, thus also
decreasing compliance. Currently, liver transplantation is the only effective
therapy. This survey shows that, in a significant number of patients, liver
transplantation is performed after some form of brain damage has already
occurred. From this, one must conclude that liver transplantation should be
performed at a young age, particularly in situations in which reliable
administration of phototherapy cannot be guaranteed