| Objective To analysis the main clinical mainfestations, laborotary features and prognosis of neonatal intrahepatic cholestasis caused by citrin defiency of 29 patients.Method 1.Collected the clinical data of 29 infants with NICCD from July 2012 to February 2015 in Children’s Hospital of Chongqing Medical University. Diagnosis were confirmed by tandem mass spectrometry(MS-MS) analysis of blood and/or SLC25A13 mutation analysis. The clinical manifestations, blood biochemical data,tandem mass spectrometry (MS-MS) analysis of blood, gas chromatography-mass spectrometry (GC-MS) analysis of urine and liver pathology were analyzed With retrospectively. 2.General situation, liver function, feeding way, growth and development level, preference of food, and the prognosis of patients were followed up in form of telephone.Result 1. Infants with NICCD developed jaundice in an early time, followed with the mainly clinical manifestations such as hepatomegaly, splenomegaly, abnormal coagulation function, anemia, failure to thrive and so on. 2. Laboratory data suggested that all the patients have the increase of direct bilirubin (DB), total bile acid (TBA), γ-glutamyl transferase (GGT) and alkaline phosphatase(ALP). Some patients also showed dyslipidemia and the increase of blood lactic acid, alpha-fetoprotein, the decrease of albumin, blood glucose, ceruloplasmin. 3. Liver pathological analysis of 1 patient indicated the edema and degeneration of liver cells, intrahepatic cholestasis and a small amount of fibrous tissue hyperplasia in portal area. 4. MS-MS analysis of blood samples revealed distinctive increase of methionine, tyrosine, threonine, citrulline, arginine and free carnitine, long-chain acylcarnitine in most patients. GC-MS analysis of urine samples mainly contains elevated 4-hydroxyphenyllactic acid and 4-hydroxyphenylpyruvic acid. 5. Most of the NICCD patients could recover in one-year-old with a lactose-free, MCT-enriched formula,1 died because of liver cirrhosis.Conclusion There are plenty of reasons for jaundice in infants. we should consider NICCD those who appear jaundice in an early time,with the clinical charicteristics of hepatomegaly, splenomegaly, abnormal coagulation function, anemia, failure to thrive, dyslipidemia, decresed albumin and blood glucose, increased blood lactic acid and alpha-fetoprotein. And we need perform the further tests of MS-MS, GC-MS and gene analysis of this disease in oder to get the definitive diagnosis, early management and improve the prognosis. |
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