先天性肝纤维化不同分型的临床特征——75例分析

Congenital hepatic fibrosis:clinical features of different clinical types in 75 patients

目的：比较病理证实为先天性肝纤维化（CHF）患者4种临床类型的临床、影像表现及病理特点。方法回顾性分析75例 CHF 患者的4种临床类型的临床和病理资料，并进行临床、影像表现与病理特点比较。结果75例患者中男44例，女31例，发病年龄2～55岁，平均年龄（19．88＆#177;11．59）岁。门脉高压型38例，其中脾大25例，肝大8例，腹水15例，食管静脉曲张20例，上消化道出血和黑便14例，合并 Caroli’s 病13例，肾脏病变13例；WBC、Hb、PLT 下降，肝功能正常。胆管炎型4例，无脾肿大、腹水、上消化道出血等症状，合并肾脏病变1例；血常规正常，ALT、AST、ALP、GGT 和LAP 明显升高，与隐匿型和门脉高压型相比，差异有统计学意义（P ＜0．05）。门脉高压和胆炎管混合型30例，其中脾大21例，肝大11例，腹水10例，食管静脉曲张14例，上消化道出血和黑便8例，合并 Caroli’s 病11例，肾脏病变10例，Hb 下降，与隐匿型相比差异有统计学意义（P ＜0．05），ALT、AST、ALP、GGT 和 LAP 升高，与隐匿型和门脉高压型相比，差异有统计学意义（P ＜0．05）。门脉高压型和混合型中 Hb 下降与上消化道出血呈负相关性。PAL 在各类型中差异大，差异有统计学意义（P ＜0．05）。结论在 CHF 中，肝脏合成功能正常。胆管炎型表现为慢性胆汁淤积性肝病特点，以肝功能异常及 ALP、GGT、LAP 等梗阻性酶谱升高为主，症状常不典型；门脉高压型是最常见类型，以门脉高压症及肝功能正常为特点；混合型在 CHF 中并不少见，其兼有胆管炎型和门脉高压1型两者的特点。隐匿型常无特征性表现。PAL 可能是一个有效判断 CHF 预后的指标。

Objective To describe the clinical,biochemical and histological characteristics in 75 patients with pathologically proved congenital hepatic fibrosis （CHF）.Methods The clinical,biochemical and histological data in 75 patients with four types CHF were retrospectively analyzed.Results The mean age of 75 patients （44 men,31 women） was 19.88＆#177;11 .59 years old,ranging from 2 to 55 years old.There were 38 cases with portal hypertensive CHF,in which 25 cases with splenomegaly,8 cases with hepatomegaly,15 cases with ascites,20 cases with esophageal varices,14 cases with upper digestive tract bleeding and melena,13 cases combined with Caroli＆#39;s disease,13 cases associated with renal involvement.There was a dramatic decline in total leukocyte count,red blood cell count and hemoglobin （P ＆lt;0.05 ）, however,liver enzyme levels were normal in portal hypertensive CHF.There were 4 cases with cholangitic CHF,in which 1 case associated with renal involvement.Normal blood routine and elevated levels of aspartate transaminase （AST）,alanine transaminase （ALT）,γ-glutamyl transferase （GGT）,alkaline phosphatase （ALP）and leucine aminopeptidase （LAP）were observed in cholangitic CHF,when compared with portal hypertensive CHF and occult CHF （P ＆lt;0.05 ）.There were 30 cases with mixed portal hypertensive and cholangitic CHF, in which 21 cases with splenomegaly, 11 cases with hepatomegaly,10 cases with ascites,14 cases with esophageal varices,8 cases with upper digestive tract bleeding and melena,11 cases combined with Caroli＆#39;s disease,10 cases associated with renal involvement.Hemoglobin levels were decreased,and levels of ALT,AST,ALP,GGT and LAP were increased in mixed portal hypertensive and cholangitic CHF,when compared with occult CHF （P ＆lt;0.05 ）and portal hypertensive CHF （P ＆lt;0.05 ）.Low hemoglobin levels in portal hypertensive CHF and mixed portal hypertensive and cholangitic CHF negatively correlated with esophageal variceal bleeding （r = -0.278,P =0.016）.Levels of pre-albumin were significantly different among the four types CHF （P ＆lt;0.05）.Conclusions In CHF,normally hepatic synthetic function is observed.Main manifestations of cholangitic CHF is cholestasis,with significantly elevated ALP,GGT and LAP.Cholangitis may be atypical.Portal hypertensive CHF is the most common type,portal hypertension is the most outstanding feature with normally liver enzymes. Mixed portal hypertensive and cholangitic CHF is not rare,and the most important features are portal hypertension combined with liver dysfunction.Occult CHF has no characteristic clinical manifestations.Pre-albumin might be a prognostic role in CHF.