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Disorders of the primary bile acids synthesis


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There are presented data concerning congenital disorders of primary bile acids (BA) synthesis, which are relatively new forms ofpathology from the category of metabolic liver diseases caused by the insufficiency of the enzymes responsible for the synthesis of primary BA: cholic (CA) and chenodeoxycholic (CDCA). The main sign of these pathologies is intracellular cholestasis, pathogenetically and clinically resembling Byler disease or Progressive Familial Intrahepatic Cholestasis type 1 and 2 (PFIC1 and PFIC2) progressive familial intrahepatic cholestasis (PFIHC types 1, the so-called Byler disease and syndrome). The differential diagnosis is made between Byler disease [PFIC-1] and Byler syndrome (ByS). Replacement therapy with cholic acid leads to the regression of cirrhosis of the liver, recovery of the fat-soluble vitamin deficiency, relief of neurological manifestations. This is a group of potentially curable orphan diseases, the diagnosis of which is limited meanwhile in the Russian Federation.

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