Shwachman‐Diamond syndrome

Abstract

Shwachman-Diamond syndrome (SDS) is an inherited marrow failure disorder with varying cytopenia, pancreatic dysfunction, and metaphyseal dysostosis. SDS is also characterized by a risk of myelodysplasia and leukemia in up to one third of the patients. Over the last 5 years, major advances have been made in understanding the bone marrow phenotype. The gene associated with the disease, SBDS, has recently been identified. Herein we provide an update on the clinical features, the hematopoietic defects, and the genetics of the disease as they are currently understood. We also review the diagnostic and therapeutic approaches to the hematological complications in the syndrome.

Molecular Diagnosis of Shwachman-Diamond Syndrome Presenting with Pancytopenia at an Early Age: The First Report from Turkey

“…Bone marrow cellularity reveals a wide spectrum changing from aplastic to hypercelluar. Dysplasia-like in our patient-can be seen [3]. The bone marrow evaluation of our patient showed normal cellularity.…”

“…Unfortunately, it was learned that he died in a local health care centre several weeks later due to respiratory difficulty. Discussion SDS is a rare bone marrow failure syndrome with an estimated incidence of 1 of 75,000 live births but it should be diagnosed as earlier as possible due to increased risk of myelodysplastic syndrome and acute myeloid leukemia [3]. The responsible genetic defect-SBDS gene on chromosome 7q11-was first described by Boocock et al [4] in 2003 (MIM ID *607444).…”

“…It was firstly described in 1960s and its estimated incidence is one per 75.000 live births [1][2][3]. Skeletal changes, growth failure, dental anomalies, immunological defects and recurrent infections are the other features of SDS.…”

Association of isochromosome (7)(q10) in Shwachman–Diamond syndrome with the severity of cytopenia

“…Shwachman–Diamond syndrome (SDS) (OMIM: #260400) is an autosomal recessive disorder characterized by skeletal anomalies, exocrine pancreatic dysfunction, and bone marrow failure 1, 2. Also associated with SDS are blood disorders such as cytopenia, myelodysplastic syndrome, and acute myeloid leukemia.…”

“…Correlations between specific SBDS gene mutations and the severity of the disease have not been elucidated 1, 5, 6.…”