title: Shwachman-Diamond syndrome: early bone marrow transplantation in a high risk patient and new clues to pathogenesis.
abstract: Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterised by exocrine pancreas insufficiency, metaphyseal dysostosis and bone marrow dysfunction. Recurrent severe bacterial infections and susceptibility to leukaemia are the major causes of morbidity and mortality occurring preferentially in patients with pancytopenia and features of myelodysplasia. Here we report a patient with SDS leading to recurrent bacterial infections and a deteriorating condition since early infancy. Extensive investigations disclosed severe pancytopenia, myelodysplasia and a clonal cytogenetic abnormality, inv(14)(q11q32), as risk factors of leukaemic transformation. He therefore underwent allogeneic geno-identical bone marrow transplantation which resulted in correction of all haematological and immunological abnormalities within an 18-month follow up period. Conclusion Bone marrow transplantation may be considered early as a valuable treatment option especially in high risk Schwachman-Diamond syndrome patients anticipating malignant transformation, life-threatening severe infections or further organ damage.
authors.affiliation: Division of Immunology/Haematology, University Children's Hospital, Steinwiesstrasse 75, CH-8032 Zurich, Switzerland.
authors.forename: J
authors.initials: J
authors.lastname: Faber
authors.forename: R
authors.initials: R
authors.lastname: Lauener
authors.forename: F
authors.initials: F
authors.lastname: Wick
authors.forename: D
authors.initials: D
authors.lastname: Betts
authors.forename: L
authors.initials: L
authors.lastname: Filgueira
authors.forename: R A
authors.initials: RA
authors.lastname: Seger
authors.forename: T
authors.initials: T
authors.lastname: Güngör
mesh_terms: D001855:Bone Marrow Diseases / Q000628:therapy*; D016026:Bone Marrow Transplantation; D002675:Child, Preschool; D010188:Exocrine Pancreatic Insufficiency / Q000628:therapy*; D006801:Humans; D008297:Male; D009190:Myelodysplastic Syndromes / Q000628:therapy; D010198:Pancytopenia / Q000628:therapy*; D012307:Risk Factors; D013577:Syndrome