Shwachman-Diamond syndrome surgery

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Shwachman-Diamond syndrome Microchapters

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Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Shwachman-Diamond Syndrome from other Diseases

Epidemiology and Demographics

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Natural History, Complications and Prognosis

Diagnosis

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Case #1

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Surgery

Signs of progressive marrow failure may warrant bone marrow transplantation (BMT). This has been used successfully to treat hematological aspects of disease. However, SDS patients have an elevated occurrence of BMT-related adverse events, including graft-versus-host disease (GVHD) and toxicity relating to the pre-transplant conditioning regimen. In the long run, study of the gene that is mutated in SDS should improve understanding of the molecular basis of disease. This, in turn, may lead to novel therapeutic strategies, including gene therapy and other gene- or protein-based approaches.

References

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