van der Veere C N, Sinaasappel M, McDonagh A F, Rosenthal P, Labrune P, Odièvre M, Fevery J, Otte J B, McClean P, Bürk G, Masakowski V, Sperl W, Mowat A P, Vergani G M, Heller K, Wilson J P, Shepherd R, Jansen P L
University Hospital Groningen, Department of Pediatrics, The Netherlands.
Hepatology. 1996 Aug;24(2):311-5. doi: 10.1002/hep.510240205.
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.
本研究是一项关于1型克里格勒 - 纳贾尔综合征（CNS）患者管理的多中心调查。该调查的目的是为医生护理这些患者找到指导原则。共纳入57例患者。纳入时，21例患者已接受肝移植（37%）。移植时的平均年龄为9.1±6.9岁（范围1 - 23岁）；纳入时未接受移植的患者年龄为6.9±6.0岁（范围0 - 23岁）。15例患者（26%）出现了脑损伤。5例患者死亡，10例存活但有一定程度的智力或身体残疾。在2例年龄分别为22岁和23岁的患者中，胆红素脑病的早期体征得以逆转，1例通过及时的药物干预后进行肝移植，另1例通过及时的肝移植得以逆转。7例患者在手术时已有一定程度的脑损伤，其中1例在再次移植后死亡，2例神经功能改善，4例仍有神经功能障碍。移植时或移植前有脑损伤的8例患者和无脑损伤的13例患者的年龄分别为14.3±5.9岁和5.9±5.4岁（P <.01）。1型CNS的治疗包括光疗（每天12小时），然后进行肝移植。光疗虽然最初非常有效，但在社会生活中不方便，且在年龄较大的患者中效果降低，从而也降低了依从性。目前，肝移植是唯一有效的治疗方法。该调查表明，在相当数量的患者中，肝移植是在已经出现某种形式的脑损伤后进行的。由此必须得出结论，肝移植应在年轻时进行，特别是在无法保证可靠进行光疗的情况下。
