Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
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Una colestasi senza prurito

Cholestasis without itching

Lorenza Matarazzo1, Stefano Martelossi1, Giuseppe Maggiore2, Gian Paolo Chiaffoni3 , Alessandro Ventura1
1IRCCS Materno-Infantile “Burlo Garofolo”, Università di Trieste
2Dipartimento di Pediatria, Ospedale Universitario Santa Chiara, Pisa
3UO Pediatria, Ospedale Civile, Conegliano (TV)

Maggio 2013

Abstract
Bile acids deficiency is characterized by an inadequate synthesis of bile salts with accumulation of abnormal hepatotoxic metabolites and liver damage. High levels of abnormal bile acid are found in urine. Clinical features include jaundice without itching, hepatomegaly, poor growth and steatorrhea. The onset is often with rickets. Cholic acid replacement at a dose of 10-15 mg/kg/daily is the therapy of choice.
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Parole chiave
Bile acids deficiency carenza di acidi biliari Cholestasis Cholic acid therapy Colestasi Terapia con acido colico Acido colico terapia
Suggerite dall'AI
Rachitismo Rickets Steatorrea
Classificazione MeSH
Polycyclic Compounds Fused-Ring Compounds Steroids Bile Acids and Salts (10)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Metabolism, Inborn Errors Lipid Metabolism, Inborn Errors (3)
Bibliografia
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