CURRENT THERAPY FOR CRIGLER-NAJJAR SYNDROME TYPE-1 - REPORT OF A WORLD REGISTRY

This study represents a multicenter survey on the management of patien ts with Crigler-Najjar syndrome (CNS) type 1. The aim of the survey wa s to find guiding principles for physicians in the care of these patie nts, Fifty-seven patients were included, At the time of inclusion, 21 patients had received a liver transplant (37%). The average age at tra nsplantation 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, Ln 2 patients, ages 22 and 23 years, early signs of bilirubin encephalopathy could be reversed, in 1 by pro mpt medical intervention followed by liver transplantation and in the other by prompt liver transplantation. Seven patients underwent transp lantation with some degree of brain damage at the time of the surgery; 1 of these died after retransplantation, 2 improved neurologically, a nd 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 c onsists of phototherapy (12 h/d), followed by liver transplantation. P hototherapy, although initially very effective, is socially inconvenie nt and becomes less efficient in the older age group, thus also decrea sing compliance, Currently, liver transplantation is the only effectiv e therapy, This survey shows that, in a significant number of patients , liver transplantation is performed after some form of brain damage h as already occurred. From this, one must conclude that Liver transplan tation should be performed at a young age, particularly in situations in which reliable administration of phototherapy cannot be guaranteed.