Current therapy for Crigler‐Najjar syndrome type 1: Report of a world registry
Current therapy for Crigler‐Najjar syndrome type 1: Report of a world registry
复制标题
当前 1 型克里格勒-纳贾尔综合征的治疗方法：世界登记报告
作者：
Christa N Veere;M. Sinaasappel;A. Mcdonagh;Philip Rosenthal;P. Labrune;M. Odiévre;J. Fevery;J. Otte;P. Mcclean;G. Bürk;V. Masakowski;W. Sperl;A. Mowat;G. Vergani;K. Heller;J. P. Wilson;Ross W. Shepherd;P. Jansen
本研究是一项关于1型Crigler-Najjar综合征（CNS）患者管理的多中心调查。调查的目的是为医生在护理这些患者时找到指导原则。纳入了57名患者。在入选时，21例患者接受了肝移植（37%）。移植时的平均年龄为9.1 ± 6.9岁（范围：1-23岁）;入选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%）发生脑损伤。5名患者死亡，10名患者存活，但有一定程度的精神或身体残疾。在2例患者中，年龄分别为22岁和23岁，胆红素脑病的早期体征可以逆转，其中1例通过及时的医疗干预，随后进行肝移植，另1例通过及时的肝移植。7例患者在手术时接受了一定程度的脑损伤的移植;其中1例在再次移植后死亡，2例神经功能改善，4例神经功能受损。8例有脑损伤患者和13例无脑损伤患者在移植时或移植前的年龄分别为14.3 ± 5.9岁和5.9 ± 5.4岁（P < .01）。CNS 1型的治疗包括光疗（12 h/d），然后进行肝移植。光疗，虽然最初非常有效，但在社交上不方便，并且在老年组中效率较低，因此也降低了依从性。目前，肝移植是唯一有效的治疗方法。这项调查表明，在相当数量的患者中，肝移植是在某种形式的脑损伤已经发生后进行的。由此，我们必须得出结论，肝移植应在年轻时进行，特别是在不能保证可靠的光疗管理的情况下。
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.
影响因子：
15.9
作者：
SEPPEN, J;BOSMA, PJ;ELFERINK, RPJO
通讯作者：
ELFERINK, RPJO