Problemi speciali
La sindrome di Alagille
Alagille syndrome
Silvia Nastasio1, Marco Sciveres2, Silvia Ghione1, Giulia Marsalli1, Francesco Cirillo2, Silvia Riva2, Giuseppe Maggiore1
1Gastroenterologia Pediatrica, Dipartimento di Medicina Clinica e Sperimentale e Dipartimento Materno-Infantile
dell’Azienda Ospedaliera Universitaria Pisana, Pisa
2Epatologia Pediatrica e Trapianto di Fegato, IsMett, University of Pittsburgh Medical Center, Palermo
Dicembre 2013 - pagg. 635 -642
Abstract
Alagille syndrome (ALGS, OMIM 118450) is a multisystem disorder due to defects in
components of the Notch signalling pathway. Its main clinical and pathological features
are chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery
stenosis, vertebral segmentation anomalies, characteristic facies, posterior embryotoxon
and dysplastic kidneys. It is transmitted in an autosomal dominant pattern of inheritance
with variable expressivity that accounts for its phenotypic variability. Diagnosis may
be easy if all the clinical signs are present, while it can be difficult in some patients who
do not show unequivocal classic features of the disorder. The short-term prognosis is conditioned
by the severity of the possible complex cardiopathy and by the presence of an
early and severe cholestasis, while the prognosis in the long term remains uncertain because
of the risk of developing a terminal renal insufficiency and cerebral vascular complication.
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Classificazione MeSH
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Corrispondenza: giuseppe.maggiore@med.unipi.it