Novel Targets in Rare Liver Diseases in Childhood

Rare liver diseases are highly diverse and driven by multiple mechanisms that are not well understood. Classifying these diseases is challenging, but the European Reference Network (ERN) on rare liver diseases has proposed categorizing them as autoimmune, infectious, genetic/hereditary, vascular, neoplastic, and others with unknown causes. Despite the difficulties in studying these diseases due to limited access to large series and biological samples, they have significant translational value. Rare liver diseases can serve as unique models for understanding liver pathophysiological responses and mechanisms of disease progression. In monogenic conditions, the impact of a single faulty gene on homeostatic mechanisms can be studied under well-established experimental conditions. Therefore, rare liver diseases can be seen as a roadmap for understanding core mechanisms that may also be relevant for more common chronic liver diseases. There are numerous rare liver diseases in newborn and childhood, with some of the more common ones being Alagille syndrome, biliary atresia, primary bile disorders, a group of 9 gene defects with correlating enzyme defect of the two different bile synthesis pathways, primary biliary cholangitis, primary sclerosing cholangitis and progressive familial intrahepatic cholestasis (PFIC). Going into detail all these have any genetic background in children, which will be evaluated closely in this manuscript.

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Abstract