RESUMO
Congenital disorders of glycosylation (CDGs) is a group of inherited metabolic diseases caused by abnormal glycosylation of protein or lipids, and the number of CDGs are increasing rapidly in recent years. With the advent and popularization of next-generation sequencing, more and more disorders associated with glycosylation-related gene mutations have been discovered. Synthesis of glycoproteins and glycolipids is one of the major roles of the liver, and many CDGs affect hepatobiliary structure or function and may lead to fatty liver disease, liver fibrosis, and ductal plate malformation. This article reports the latest advances in the pathogenesis, diagnosis, and treatment of CDGs and related liver diseases.
RESUMO
With the improvement in quality of life and the level of prevention and treatment of viral hepatitis, as well as the availability of genetic testing, genetic liver disorders have been taken more and more seriously. Genetic liver disorders have various clinical manifestations, such as abnormalities in the liver and intrahepatic or extrahepatic blood vessels/bile ducts, and it can also involve other organs and systems in the human body. These are the myriad faces of genetic liver disorders. This article focuses on different manifestations of genetic liver disorders, in order to help physicians identify the etiology and pathogenic gene of liver disease.