Drivdal Monica, Trydal Torleif, Hagve Tor-Arne, Bergstad Ingunn, Aagenaes Oystein
Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway.
Scand J Gastroenterol. 2006 Apr;41(4):465-71. doi: 10.1080/00365520500335183.
To investigate the prognosis of liver disease in Aagenaes syndrome (lymphoedema cholestasis syndrome 1 (LCS1)), which is an autosomal recessive inherited syndrome consisting of neonatal cholestasis with intermittent cholestatic episodes in childhood into adulthood and development of lymphoedema. Forty Norwegian patients are known to have this condition, 25 of whom are alive. A clinical description of the liver disease is supplied with a case-control study.
In this paper we review the course of the liver disease in the Norwegian cohort of patients and present results from a case-control study in the patients above 10 years of age. The case-control study was performed on 15 patients without clinical cholestasis (itching and sometimes jaundice) at the time of the study. An evaluation of 11 patients above 15 years of age without chronic biochemical cholestasis (increased alkaline phosphatase (ALP), gamma-glutamyl transferase (GGT) and/or serum bile acids) was also carried out. For each patient one randomly identified control person was included (15 in one study, 11 in the other).
Cirrhosis with either transplantation or death in infancy or early childhood occurred in six patients; slowly developing cirrhosis occurred in three patients. Two patients may be in the process of developing cirrhosis. Significantly increased ALP and GGT levels were found in patients with normal liver biochemistry in the preceding years when compared with the case control group. Additionally, albumin was found to be lower in older patients.
Compared with that for other types of hereditary neonatal cholestasis, patients with LCS1 have a relatively good prognosis. More than 50% can expect a normal life span.
研究阿格内斯综合征（淋巴水肿性胆汁淤积综合征1型（LCS1））患者的肝脏疾病预后。阿格内斯综合征是一种常染色体隐性遗传综合征，其特征包括新生儿胆汁淤积、儿童期至成年期间歇性胆汁淤积发作以及淋巴水肿的发生。已知有40名挪威患者患有此病，其中25人仍在世。本文通过一项病例对照研究提供了肝脏疾病的临床描述。
在本文中，我们回顾了挪威患者队列中肝脏疾病的病程，并呈现了对10岁以上患者进行的病例对照研究结果。病例对照研究针对15名在研究时无临床胆汁淤积（瘙痒，有时伴有黄疸）的患者进行。还对11名15岁以上无慢性生化胆汁淤积（碱性磷酸酶（ALP）、γ-谷氨酰转移酶（GGT）和/或血清胆汁酸升高）的患者进行了评估。对于每位患者，纳入一名随机确定的对照者（一项研究中为15名，另一项研究中为11名）。
6名患者出现肝硬化，伴有婴儿期或幼儿期移植或死亡；3名患者出现缓慢进展的肝硬化。2名患者可能正处于肝硬化发展过程中。与病例对照组相比，前几年肝脏生化指标正常的患者中，ALP和GGT水平显著升高。此外，老年患者的白蛋白水平较低。
与其他类型的遗传性新生儿胆汁淤积相比，LCS1患者的预后相对较好。超过50%的患者有望正常寿命。
