Clinical and Molecular Pathophysiology of Shwachman-Diamond Syndrome: An Update

被引：75

作者：

Myers, Kasiani C. ^{[1
]}

Davies, Stella M. ^{[1
]}

Shimamura, Akiko ^{[2
]}

机构：

[1] Univ Cincinnati, Cincinnati Childrens Hosp, Med Ctr, Div Bone Marrow Transplantat & Immune Deficiency, Cincinnati, OH 45229 USA

[2] Univ Washington, Seattle Childrens Hosp, Fred Hutchinson Canc Res Ctr, Dept Pediat Hematol Oncol, Seattle, WA 98105 USA

来源：

HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA | 2013年 / 27卷 / 01期

关键词：

Bone marrow failure; Shwachman-diamond syndrome; Ribosomes; MARROW FAILURE SYNDROMES; 60S RIBOSOMAL-SUBUNIT; EXOCRINE PANCREATIC DYSFUNCTION; CONGENITAL NEUTROPENIA; SYNDROME PROTEIN; MITOTIC SPINDLE; RISK-FACTORS; SBDS; DEFECT; INSTABILITY;

D O I：

10.1016/j.hoc.2012.10.003

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Shwachman-Diamond syndrome (SDS) is an inherited neutropenia syndrome associated with a significant risk of aplastic anemia and malignant transformation. Multiple additional organ systems, including the pancreas, liver, and skeletal and central nervous systems, are affected. Mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene are present in most patients. There is growing evidence that SBDS functions in ribosomal biogenesis and other cellular processes. This article summarizes the clinical phenotype of SDS, diagnostic and treatment approaches, and novel advances in our understanding of the molecular pathophysiology of this disease.

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页码：117 / +

页数：13

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