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Shwachman-Diamond syndrome
Published in:
Semin Hematol, Vol: 39, Page: 95-102
Publication Date:
April 2002
Aims & Objectives:
This article discusses Shwachman-Diamond syndrome
Abstract:
Shwachman-Diamond syndrome (SDS), described just under 40 years ago, is a rare, autosomal-recessive disorder usually manifest in infancy and characterized by exocrine pancreatic insufficiency, short stature, and bone marrow dysfunction. Additional clinical features include metaphyseal dysostosis, epiphyseal dysplasia, immune dysfunction, liver disease, growth failure, renal tubular defects, insulin-dependent diabetes mellitus, and psychomotor retardation. Hematological manifestations other than neutropenia include anemia, raised fetal hemoglobin (HbF) levels, thrombocytopenia, impaired neutrophil chemotaxis, and aplastic anemia; as with other constitutional bone marrow failure syndromes, there is a predilection to malignant myeloid transformation. No unifying pathogenetic mechanism(s) has yet been shown to be responsible for SDS, although new insights into the molecular, genetic, and cellular basis of this rare disease have recently been described.
Authors:
O. P. Smith
Study Type:
Non Study Papers » Discussion paper, review, commentary, letter »
Keywords:
- Bone Marrow Diseases/etiology/pathology/therapy
- Exocrine Pancreatic Insufficiency/ etiology/pathology/therapy
- Growth Disorders/ etiology/pathology/therapy
- Humans
- Stem Cell Transplantation
- Syndrome
Geography:
Republic of Ireland (Republic of Ireland)