中文English
ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R
Volume 35 Issue 4
Apr.  2019
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Article Contents

Diagnosis and treatment of inherited metabolic liver disease

DOI: 10.3969/j.issn.1001-5256.2019.04.048
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  • Published Date: 2019-04-20
  • The liver is the key place for most metabolic pathways, so it is often involved earliest and has the most severe injury, and liver injury of some inherited metabolic diseases may develop into liver cirrhosis and even malignant tumors of the liver and tended to have poor prognosis. Inherited metabolic liver disease often has complicated clinical manifestations, and the limitations of conventional diagnostic and therapeutic methods are difficult issues for clinical physicians. With the development of cellular and molecular biology techniques, new diagnostic and therapeutic methods, such as gene detection, gene therapy, and stem cell transplantation, have been gradually applied in clinical practice, bringing hope to patients with refractory diseases. This article reviews the recent advances in the diagnosis and treatment of inherited metabolic liver diseases commonly seen in clinical practice, such as hepatolenticular degeneration, hereditary hemochromatosis, glycogen storage disease, ɑ1-antitrypsin deficiency, hereditary hyperbilirubinemia, and hereditary cholestasis.

     

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