title: Shwachman-Diamond syndrome with autoimmune-like liver disease and enteropathy mimicking celiac disease.
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.
authors.affiliation: Pediatrics Section, University of Naples "Federico II", Naples, Italy. Electronic address: claveropalu@hotmail.it.
authors.forename: Claudio
authors.initials: C
authors.lastname: Veropalumbo
authors.affiliation: Department of Scienze Mediche e del Lavoro, Pediatrics Section, University of Foggia, Foggia, Italy. Electronic address: angelo.campanozzi@unifg.it.
authors.forename: Angelo
authors.initials: A
authors.lastname: Campanozzi
authors.affiliation: Pediatrics Section, University of Naples "Federico II", Naples, Italy. Electronic address: fabioladegregorio@yahoo.it.
authors.forename: Fabiola
authors.initials: F
authors.lastname: De Gregorio
authors.affiliation: Pediatric Hospital Santobono-Annunziata, Naples, Italy. Electronic address: antcorrera@gmail.com.
authors.forename: Antonio
authors.initials: A
authors.lastname: Correra
authors.affiliation: Pediatrics Section, University of Naples "Federico II", Naples, Italy. Electronic address: raia@unina.it.
authors.forename: Valeria
authors.initials: V
authors.lastname: Raia
authors.affiliation: Department of Medicine and Surgery, Chair of Pediatrics, University of Salerno, Baronissi-Salerno, Italy; European Laboratory for Food Induced Disease (ELFID), Naples, Italy. Electronic address: pvajro@unisa.it.
authors.forename: Pietro
authors.initials: P
authors.lastname: Vajro
mesh_terms: D001855:Bone Marrow Diseases / Q000150:complications*; D002446:Celiac Disease / Q000175:diagnosis*; D003937:Diagnosis, Differential; D010188:Exocrine Pancreatic Insufficiency / Q000150:complications*; D005260:Female; D019693:Hepatitis, Autoimmune / Q000150:complications*; D006801:Humans; D007223:Infant; D007410:Intestinal Diseases / Q000150:complications* / Q000175:diagnosis*; D008068:Lipomatosis / Q000150:complications*; D000081003:Shwachman-Diamond Syndrome