BỆNH GAN CHUYỂN HOÁ Ở TRẺ EM

Abstract

Background: Metabolic liver disease in children is  not similar that in adults, most of them are caused by genetic disoder. Most of symtoms of metabolic liver disease in children can present from childhood. In the case the diseases are not diagnosed and managed, they may progress to chronic liver disease in adults with consequences of cirrhosis, portal hypertension, end-stage liver disease or have acute episodes with the risk of death.... Up to now, we only have a few studies on metabolic liver disease in children. Aims: " Review of clinical and subclinical characteristics of metabolic liver diseases in children". Materials and methods: Descriptive study on group of metabolic liver disease patients at Vietnam National children’s hospital from 2008-2019. Results: There are 478 metabolic liver disease. NICCD group has highest rate with 186 cases (38.9%), average age 3,2  1,6 months with symtoms cholestasis, liver failure and Chubby face. 112 Wilson cases with an average age of 114.8 years, accounting for 23.4% of all group with many diverse phenotypes and progression. There are 64 patients (accounting for 13.5%) were diagnosed with Glycogenose by histopathological criteria, 38 Alagille patients (7.9%) who has not only cholestasis but also congenital heart disease, abnormal spine and kidney defects... PFIC syndrome has 14 cases (2.9%), 12 cases with ARC syndrome (2.5%), 3 cases  anpha1antitrypsin deficiency(AAT)  0,6%. There were 49 cases (10.4%) included  Rotor; bile acid metabolism disorder, Galactosemia, Tyrosinemia, DGOUK… (only 1 patient for each disease) and group of patients who have had abnormal liver test with evidence of a nonclassified metabolic disorder. Conclusion: Metabolic liver disease are complicated group, which can cause acute episode or chronic liver disease in children. Early detection and management of this group in th childhood not only cure patients but also limit the long-term consequences of the chronic liver disease in adulthood and genetic counseling