Abstract
Background and aims: PFIC has been distinguished from other forms of cholestatic liver disease in childhood by clinical, biological and morphologic studies. Molecular biology permet to confirm the diagnosis and to distinguish tow forms (PFIC1 and 2) due to tow separate genes: ATP8B1 and ABCB11.
The Aim of our study is to investigate the clinical aspects of PFIC with low GGT in Tunisian patients and to establish standard strategy of management.
Patients and methods: Forty five patients from 22 unrelated families were retrospectively reviewed (1995-2009) from 3 paediatric centers. The diagnosis was performed by combination of clinical (pruritus), biological (cholestasis with normal or low level of GGT and normal level of cholesterol), histological features, familial history and high level of serum primary bile acids.
Results: The age at presentation ranged from the neonatal period to 12 months. Consanguinity was found in 85%. Pruritus and hepatomegalia are constant. Fourteen infants had lichenification and enlargement of hands and feet. For infants have vesicular lithiasis (12.5%). Response to AUCD treatment was in 55%. Eleven infants (34%) developed portal features. Nine infants (28%) were dead at age from 5 months to 15 years old. Tow cases have an intense pruritis managed with high dose of rifampicin and sertraline. For cases had extrahepatic futures (pancreatitis and Beer distruption).
Conclusion: The prognosis of the infants with PFIC will be ameliorated by the developement of hepatic transplantation. Molecular biology is a sure tool of diagnosis and antenatal diagnosis will be soon performed in Tunisia.
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Barkaoui, E., Ayadi, A., Chaabouni, M. et al. 793 Progressive Familial Intranhepatic Cholestasis with Low Gammaglutamyltransfrasis: Tunisian Experience About 45 Cases. Pediatr Res 68 (Suppl 1), 400 (2010). https://doi.org/10.1203/00006450-201011001-00793
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DOI: https://doi.org/10.1203/00006450-201011001-00793