title: [Hypertransaminasemia as a manifestation of Shwachman-Diamond syndrome].
abstract: Shwachman-Diamond syndrome (SDS) is the second most common cause of congenital exocrine pancreatic insufficiency after cystic fibrosis. SDS is an autosomal recessive multisystemic disorder, with wide heterogenicity in its clinical characteristics. The central features of this syndrome are pancreatic exocrine and bone marrow dysfunction (mainly neutropenia). Other features are skeletal abnormalities, hepatomegaly, elevation of serum aminotransferase levels, short stature and frequent infections. We present two patients who were referred to us because of persistent hypertransaminasemia. In both patients, liver function returned to normal and pancreatic function improved. Both patients showed several neutropenic episodes but no bone disorders, which does not exclude the diagnosis.
authors.affiliation: Unidad de Gastroenterología Infantil, Hospital Universitario La Fe, Valencia, España. epmonjardin@hotmail.com
authors.forename: F
authors.initials: F
authors.lastname: Revert Lázaro
authors.forename: E
authors.initials: E
authors.lastname: Pérez Monjardín
authors.forename: A Pereda
authors.initials: AP
authors.lastname: Pérez
mesh_terms: D001855:Bone Marrow Diseases / Q000097:blood* / Q000150:complications / Q000175:diagnosis*; D001842:Bone and Bones / Q000002:abnormalities*; D002675:Child, Preschool; D010188:Exocrine Pancreatic Insufficiency / Q000097:blood* / Q000150:complications / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007223:Infant; D008659:Metabolic Diseases / Q000097:blood* / Q000209:etiology; D009503:Neutropenia / Q000097:blood* / Q000150:complications / Q000175:diagnosis*; D013577:Syndrome; D000637:Transaminases / Q000097:blood*
chemical_list: D000637:Transaminases