Shwachman-Diamond syndrome: early bone marrow transplantation in a high risk patient and new clues to pathogenesis

Citation
J. Faber et al., Shwachman-Diamond syndrome: early bone marrow transplantation in a high risk patient and new clues to pathogenesis, EUR J PED, 158(12), 1999, pp. 995-1000
Citations number
29
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Pediatrics,"Medical Research General Topics
Journal title
EUROPEAN JOURNAL OF PEDIATRICS
ISSN journal
0340-6199 → ACNP
Volume
158
Issue
12
Year of publication
1999
Pages
995 - 1000
Database
ISI
SICI code
0340-6199(199912)158:12<995:SSEBMT>2.0.ZU;2-M
Abstract
Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder charact erised by exocrine pancreas insufficiency, metaphyseal dysostosis and bone marrow dysfunction. Recurrent severe bacterial infections and susceptibilit y to leukaemia are the major causes of morbidity and mortality occurring pr eferentially 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 investigation s disclosed severe pancytopenia, myelodysplasia and a clonal cytogenetic ab normality, inv(14)(q11q32), as risk factors of leukaemic transformation. He therefore underwent allogeneic gene-identical bone marrow transplantation which resulted in correction of all haematological and immunological abnorm alities within an 18-month follow up period. Conclusion Bone marrow transplantation may be considered early as a valuabl e treatment option especially in high risk Schwachman-Diamond syndrome pati ents anticipating malignant transformation, life-threatening severe infecti ons or further organ damage.