因孤立性多囊肝病就诊于肝脏中心的患者：137 例病例的临床特征。

Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases.

机构信息

Department of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.

出版信息

Liver Int. 2011 Jan;31(1):92-8. doi: 10.1111/j.1478-3231.2010.02247.x.

DOI:10.1111/j.1478-3231.2010.02247.x

PMID:20408955

Abstract

BACKGROUND AND AIM

Isolated polycystic liver disease (PCLD) is characterized by the presence of multiple cysts in the liver in the absence of polycystic kidneys. The clinical profile of PCLD is poorly defined and we set up a study for the clinical characteristics of PCLD.

METHODS

We collected clinical data on 188 PCLD patients (defined as >10 liver cysts) from five tertiary referral centres, and 137 patients were selected for the purpose of this study. We performed molecular analysis of the PCLD associated genes PRKCSH and SEC63 in 91 patients.

RESULTS

A total of 118 (86%) patients were female. The majority of patients (88%) had >20 cysts. The median age at diagnosis was 47 years (range 23-84). 37 (41%) patients carried a mutation. Clinical symptoms at presentation were present in 111 (84%) patients. γ-glutamyl transferase was elevated to 1.4 times upper limit of normal (interquartile range 1.0-2.7). The presence of a mutation and female gender predicted a more severe course: female patients were 9 years younger at the time of diagnosis (47 years; range 23-84) and 91% had symptoms (P<0.01); likewise, mutation carriers were younger at presentation (39 years; range 35-48) and 95% of this cohort had symptoms (P<0.01). During follow-up [median 8.2 years (range 0-35)], 10% of untreated and 51% of treated patients developed complications. Mortality in this cohort was 8%, but only 2% died of PCLD-related causes. 58% of patients were treated a median of 2 years (range 0-25) after diagnosis.

CONCLUSION

Symptomatic PCLD patients are mainly females. Females and mutation carriers were younger at diagnosis and had a more severe course of disease.

摘要

背景与目的

孤立性多囊肝病（PCLD）的特征是肝脏存在多个囊肿而肾脏无多囊改变。PCLD 的临床特征尚未完全明确，因此我们开展了一项研究以明确 PCLD 的临床特征。

方法

我们收集了来自五家三级转诊中心的 188 例 PCLD 患者（定义为>10 个肝囊肿）的临床资料，其中 137 例患者被纳入本研究。我们对 91 例患者的 PCLD 相关基因 PRKCSH 和 SEC63 进行了分子分析。

结果

共有 118 例（86%）患者为女性。大多数患者（88%）的肝囊肿数量>20 个。中位诊断年龄为 47 岁（范围 23-84 岁）。37 例（41%）患者携带突变。111 例（84%）患者有临床症状。γ-谷氨酰转移酶升高至正常值上限的 1.4 倍（四分位距 1.0-2.7）。突变的存在和女性性别预示着更严重的病程：女性患者的诊断年龄小 9 岁（47 岁；范围 23-84 岁），91%有症状（P<0.01）；同样，突变携带者的发病年龄也较小（39 岁；范围 35-48 岁），这一队列中有 95%的患者有症状（P<0.01）。在随访期间[中位随访时间 8.2 年（范围 0-35 年）]，未治疗的患者中有 10%和治疗的患者中有 51%发生了并发症。该队列的死亡率为 8%，但仅有 2%死于 PCLD 相关原因。58%的患者在诊断后中位 2 年（范围 0-25 年）接受了治疗。