Shwachman-Diamond syndrome with autoimmune-like liver disease and enteropathy mimicking celiac disease

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Abstract

Liver abnormalities that normalize during infancy as well an enteropathy are reported in Shwachman-Diamond syndrome (SDS). The pathogenesis of both conditions is unknown. We report two SDS cases with autoimmune-like (antismooth muscle and/or antinuclear antibody positivity) liver disease and antigliadin antibody positive inflammatory enteropathy. Hypertransaminasemia did not resolve after immunosuppressive therapy and/or a gluten-free diet. These transient autoimmune phenomena and gut-liver axis perturbations may have played a role in transient SDS hepatopathy and enteropathy. Our report may stimulate other studies to define the relationship between the SDS genetic defect and intestinal permeability as the pathogenic mechanism underlying SDS related liver and intestinal inflammation.

Autore Pugliese

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  • Veropalumbo C. , Campanozzi A. , De Gregorio F. , Correra A. , Raia V. , Vajro P.

Titolo volume/Rivista

CLINICS AND RESEARCH IN HEPATOLOGY AND GASTROENTEROLOGY

Anno di pubblicazione

2015

ISSN

2210-7401

ISBN

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Numero di citazioni Wos

Nessuna citazione

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0

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