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. 2022 Jan;54(1):40-53.
doi: 10.1016/j.dld.2021.09.011. Epub 2021 Oct 20.

Diagnostic approach to neonatal and infantile cholestasis: A position paper by the SIGENP liver disease working group

Giusy Ranucci  1 , Claudia Della Corte  2 , Daniele Alberti  3 , Maria Pia Bondioni  4 , Giovanni Boroni  3 , Pier Luigi Calvo  5 , Mara Cananzi  6 , Manila Candusso  2 , Maria Grazia Clemente  7 , Lorenzo D'Antiga  8 , Irene Degrassi  9 , Jean De Ville De Goyet  10 , Fabiola Di Dato  11 , Angelo Di Giorgio  8 , Carlo Dionisi Vici  12 , Federica Ferrari  13 , Paola Francalanci  14 , Maurizio Fuoti  15 , Fabio Fusaro  16 , Paola Gaio  6 , Chiara Grimaldi  17 , Maria Iascone  18 , Giuseppe Indolfi  19 , Raffaele Iorio  11 , Giuseppe Maggiore  2 , Claudia Mandato  1 , Lorenza Matarazzo  20 , Lidia Monti  21 , Fabio Mosca  22 , Gabriella Nebbia  9 , Federica Nuti  9 , Giulia Paolella  9 , Michele Pinon  5 , Paola Roggero  22 , Marco Sciveres  23 , Daniele Serranti  19 , Marco Spada  17 , Pietro Vajro  24 , Emanuele Nicastro  8
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Diagnostic approach to neonatal and infantile cholestasis: A position paper by the SIGENP liver disease working group

Giusy Ranucci et al. Dig Liver Dis. 2022 Jan.

Abstract

Neonatal and infantile cholestasis (NIC) can represent the onset of a surgically correctable disease and of a genetic or metabolic disorder worthy of medical treatment. Timely recognition of NIC and identification of the underlying etiology are paramount to improve outcomes. Upon invitation by the Italian National Institute of Health (ISS), an expert working grouped was formed to formulate evidence-based positions on current knowledge about the diagnosis of NIC. A systematic literature search was conducted to collect evidence about epidemiology, etiology, clinical aspects and accuracy of available diagnostic tests in NIC. Evidence was scored using the GRADE system. All recommendations were approved by a panel of experts upon agreement of at least 75% of the members. The final document was approved by all the panel components. This position document summarizes the collected statements and defines the best-evidence diagnostic approach to cholestasis in the first year of life.

Keywords: Alagille syndrome; Biliary atresia; Diagnosis; Genetic liver disease; Inborn errors of metabolism; Jaundice; Monogenic liver disease; Newborn.

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