RÉSUMÉ
Objective To investigate the clinical manifestations,laboratory features,methods of diagnosis and treatment and prognosis outcome of intrahepatic cholestasis caused by citrin deficiency (NICCD).Methods Four patients in two months ages diagnosed as NICCD were investigated from February 2014 to December 2014 in the Children's Hospital of Wuhan.The diagnosis and treatment and prognosis were analyzes.Results All patients were in hospital due to the skin with yellow dye admission.The direct bilirubin elevated anomalies associated with different levels of blood lipid,blood ammonia and lactate metabolism were characterized by liver function tests.The hot spot of NICCD SLC25A13 gene mutations in the regional common mutations IVS13 + 1G/A,1638ins23,IVS11 + 1G/A,851del4,S225X,1800ins1,R605X,IVS6 + 5G ＞ A were detected by genscaning and genotyping.Genotyping of SLC25A13 gene in 4 cases were 1638ins23 and 851del4 two heterozygous mutations,851del4 homozygous mutation,851del4 heterozygous mutation,and IVS6+ 5G＞A heterozygous mutation,respectively.So these patients were confirmed as NICCD.The patients were cured by antiinfective and gallbladder back yellow symptomatic treatments.The liver function,blood ammonia,lactic acid and blood lipid were exanimated at the time of admission,1 weeks and 2 weeks after admission,respectively.The results indicated that the treatment effect were good.The liver function were restored to normal after two weeks of outpatient.Conclusion The diagnosis of NICCD needs a comprehensive analysis of clinical,biochemical,metabolic genomics,imaging and pathology.SLC25A13 gene analysis is the reliable basis for the diagnosis of the disease.It is the key for NICCD to diagnose early.It is important to distinguish bile deposition caused by biliary atresia and other related diseases from NICCD.The diet early replacement is good for the prognosis.