Inborn errors of primary bile acid synthesis are rare genetic disorders that cause chronic liver disease, steatorrhea and fat-soluble vitamins deficiency in childhood. Absence of itching, normal γGT and serum bile acids suggest the diagnosis, confirmed by urinary mass spectrometry and gene analysis. Oral cholic acid is a safe and effective therapy for the most common defects that if untreated may lead to early cirrhosis and liver failure.

Cholic acid therapy for inborn errors of primary bile acids synthesis / Pietrobattista, A; Cananzi, M; Matarazzo, L; Ferrari, F; Maggiore, G. - In: GIORNALE DI GASTROENTEROLOGIA EPATOLOGIA E NUTRIZIONE PEDIATRICA. - ELETTRONICO. - 10:1(2018), pp. 32-35. [10.19186/ggenp_2018.007]

Cholic acid therapy for inborn errors of primary bile acids synthesis

Pietrobattista A;Ferrari F;
2018

Abstract

Inborn errors of primary bile acid synthesis are rare genetic disorders that cause chronic liver disease, steatorrhea and fat-soluble vitamins deficiency in childhood. Absence of itching, normal γGT and serum bile acids suggest the diagnosis, confirmed by urinary mass spectrometry and gene analysis. Oral cholic acid is a safe and effective therapy for the most common defects that if untreated may lead to early cirrhosis and liver failure.
2018
inborn errors of primary bile acids synthesis; cholestasis; cholic acid therapy
01 Pubblicazione su rivista::01a Articolo in rivista
Cholic acid therapy for inborn errors of primary bile acids synthesis / Pietrobattista, A; Cananzi, M; Matarazzo, L; Ferrari, F; Maggiore, G. - In: GIORNALE DI GASTROENTEROLOGIA EPATOLOGIA E NUTRIZIONE PEDIATRICA. - ELETTRONICO. - 10:1(2018), pp. 32-35. [10.19186/ggenp_2018.007]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1135233
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