先天性肝纤维化和Carolis综合征的临床特征比较

Comparative study on clinical features of congenital hepatic fibrosis and Carolis syndrome

目的探讨先天性肝纤维化(CHF)患者和Caroli综合征(CS)患者的临床、影像表现及生化学特点。方法回顾性分析CHF组63例和CS组31例患者的临床资料,并进行临床、影像表现与生化特点比较。结果 CHF组63例中发热3例、脾大28例、肝大12例、腹水19例、胸水1例、门静脉海绵样变1例、上消化道出血和黑便22例、肝囊肿3例、肾囊肿10例。RBC、Hb轻度下降,ALT、AST、ALP、GGT轻度升高。CS组31中发热10例、脾大21例、肝大13例、腹水16例、胸水7例、门静脉海绵样变5例、上消化道出血和黑便10例、肝囊肿7例、肾囊肿11例。WBC、RBC、Hb、HCT下降,AST、ALP、GGT出现轻度升高。两组在发热、脾大、肝大、肾囊肿、肝囊肿、腹水、胸水、门静脉海绵样变方面,差异有统计学意义(P<0.05);RBC、Hb和HCT在CS组中下降更明显,与CHF组相比,差异有统计学意义(P<0.05),且RBC、Hb、HCT下降与上消化道出血呈正相关性。PAL两组比较,差异有统计学意义(P<0.05)。结论 CHF和CS患者在临床表现和生化检查方面有许多相似性,但CS患者更易合并门脉高压症、肝囊肿和肾囊肿。

Objective To summarize the clinical ,imaging and biochemical features of 94 patients pathologically diagnosed as congenital hepatic fibrosis （CHF） with or without Carolis syndrome （CS） .Methods Clinical data of 94 CHF subjects ,divided into CHF patients with CS and without CS （CS group and CHF group） ,was analyzed retrospectively . Additionally ,comparative study was carried out in terms of their clinical ,imaging and biochemical features .Results Age of those 94 patients （48 man ,36 women） ,ranging from 9 months to 55 years ,was 19 .62 ± 11 .66 on average .In CHF group of 63 cases ,there were 3 cases （3 .19% ） with fever ,28 cases （29 .79% ） with splenomegaly ,12 cases （12 .77% ） with hepatomegaly ,19 cases （20 .21% ） with ascites ,1 case （1 .06% ） with hydrothorax ,1 case （1 .06% ） with portal vein cavernous transformation ,28 cases with esophageal varices ,22 cases （23 .40% ） with upper digestive tract bleeding and melena ,3 cases （3 .19% ） associated with hepatic cysts ,and 10 cases （10 .64% ） associated with renal cysts .Red blood cell count （RBC） and hemoglobin （HGB） in CHF group slightly decreased ,while levels of alanine aminotransferase （ALT） , aspartate transaminase （AST） ,alkaline phosphatase （ALP） andγ‐glutamyl transferase （GGT） were mildly elevated .In CS group of 31 cases ,there were 10 cases （10 .64% ） with fever ,21 cases （22 .34% ） with splenomegaly ,13 cases （13 .88% ） with hepatomegaly ,16 cases （17 .02% ） with ascites ,7 cases （7 .45% ） with hydrothorax ,5 cases （5 .32% ） with portal vein cavernous transformation ,13 cases with esophageal varices ,10 cases （10 .64% ） with upper digestive tract bleeding and melena ,7 cases （7 .45% ） associated with hepatic cysts ,and 11 cases （11 .70% ） associated with renal cysts .Levels of leucocytes ,erythrocytes ,hemoglobin and hematocrit （HCT） in CS group decreased ,while levels of AST ,ALP and GGT increased slightly .Comparing patients between CS and CHF groups ,statistically significant differences were found in incidence of fever ,splenomegaly ,hepatomegaly ,renal cysts ,hepatic cysts ,ascites ,hydrothorax and portal vein cavernous transformation （P〈0 .05） .Levels of RBC ,HGB ,and HCT were significantly lower in CS group than those in CHF group （P〈0 .05） ,decreasing levels of which had positive correlation with esophageal variceal bleeding （r=0 .297 ,P=0 .004 ;r=0 .386 ,P=0 .000 ;r=0 .372 ,P=0 .000 ,respectively） .The serum levels of prealbumin （PAL） between those groups were statistically significantly different （P〈0 .05） .Conclusion Patients in CHF and CS groups have many similarities in clinical and biochemical features ,while CHF patients with CS were prone to be complicated with portal hypertension （ascites , hydrothorax ,hepatosplenomegaly and obvious decrease of RBC ,HGB and HCT ） ,hepatic and renal cysts .