ABSTRACT
OBJECTIVE: To investigate the etiology of infant cholestasis,and to evaluate the commonly clinical diagnostic methods in diagnosing infant biliary atresia(BA). METHODS: A total of 142 hospitalized children with infant cholestasis in the pediatric ward of our hospital from January 1,2012 to November 30,2016 were included. RESULTS: Totally 99 cases(69.7%)were comfirmed,and the most common causes were BA,cytomegalovirus infection and citrin protein deficiency.Totally 37 cases(26.1%)were diagnosed as idiopathic infant hepatitis and 6 cases(4.2%)were undiagnosed. Compared with no-BA group,acholie stools predominated in BA group,and the serum γ-GT in BA were significantly higher. Abdominal ultrasonography showed that 81.2% were cholecyst undiscovered or small in size in BA. Hepatobiliary scintigraphy(HBS)showed that 95.0% had no image of gallbladder or radioactive concentration in bowel and 5.0% had delayed image or radioactive conceatration in BA. The difference between the two group;was statistical(P<0.01). The sensitivity,specificity,and accuracy of acholic stools to diagnose BAwere 91.3%,92.9%,and 92.2%,γ-GT≥300 U/Lwere 65.2%,91.8%,83.3%,abdominal ultrasonography were 68.8%,90.8%,84.9%,HBS were 95%,50%,68.0%,respectively. CONCLUSION: The common causes of infant cholestasis in BA,idiopathic hepatitis,cytomegalovirus infection,and Citrin protein deficiency. In the infant cholestasis with acholic stools,infracostal liver≥3 cm,serum γ-GT≥300 U/L,cholecyst undiscovered or small in size in abdominal ultrasonography,HBS undiscovered or delayed image of gallbladder or radioactive concentration in bowel,the BA should be suspected.
ABSTRACT
Objective To investigate the changing pattern of diagnosis of infantile cholestasis after screening the inherited metabolic diseases in infants with cholestasis. Methods Infants under 12 months with cholestasis were identified retrospectively from hospital records from Jan. 1996 to Dec. 2007. The data were retrieved from the medical records and analyzed by focusing particularly on the changing etiology of cholestasis and inherited metabolic diseases in these infants after performing routine screening and diagnostic procedures. Results Among 421 infants identified as having cholestasis during 12-years study period, the common causes of infantile cholestasis were cytomegalovirus (CMV) infection (36. 11% ), bile duct hypoplasia or congenital biliary atresia (31.59%), metabolic disease (8.08%), miscellaneous (10.69%), and unknown ( 13.54% ). The proportion of infants with metabolic diseases after screening increased 16 folds compared with before screening( 15.76% vs 0. 92% ,P<0. 01 ), whereas the proportion of infants with unknown cause decreased from 17.43% to 9.36% (P<0.05). There was no significant change in the proportions of CMV infection, congenital biliary atresia, and miscellaneous causes. The major metabolic diseases of 34 infants included citrin deficiency (41. 18% ) and tyrosinemia (23.53%), followed by galactosemia and progressive familial intrahepatic cholestasis (8. 82% )etc. Conclusions Inherited metabolic disease has become an important cause of infantile cholestasis, which is mainly due to citrin deficiency. Therefore, it is necessary to set a routing screening of citrin deficiency in infants with cholestasis.