Hematopoietic Stem Cell Transplantation for Shwachman-Diamond Syndrome

Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by bone marrow failure (BMF; cytopenia or aplastic anemia), exocrine pancreatic insufficiency, and skeletal abnormalities, with a predisposition to myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML) [1]. Although most individuals with SDS have some hematologic manifestations of their disease, the majority do not require transplantation. However, hematopoietic stem cell transplantation (HSCT) remains the sole curative therapy for 19% to 36% of patients with SDS who develop BMF or transformation to myeloid malignancy.

Source: Biology of Blood and Marrow Transplantation - May 14, 2020 Category: Hematology Authors: Kasiani Myers, Kyle Hebert, Joseph Antin, Farid Boulad, Lauri Burroughs, Inga Hofmann, Rammurti Kamble, Margaret L. MacMillan, Mary Eapen Tags: Pediatric Source Type: research