Shwachman-Diamond Syndrome: A Review of the Clinical Presentation,, Molecular Pathogenesis, Diagnosis, and Treatment

被引：108

作者：

Burroughs, Lauri ^{[1
,2
]}

Woolfrey, Ann ^{[1
,2
]}

Shimamura, Akiko ^{[1
,2
]}

机构：

[1] Fred Hutchinson Canc Res Ctr, Div Clin Res, Seattle, WA 98109 USA

[2] Univ Washington, Dept Pediat, Seattle, WA 98195 USA

来源：

HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA | 2009年 / 23卷 / 02期

关键词：

Shwachman-Diamond syndrome; Aplastic anemia; Inherited marrow failure; Cancer predisposition; Hematopoietic cell transplantation; Neutropenia; BONE-MARROW-TRANSPLANTATION; STEM-CELL TRANSPLANTATION; EXOCRINE PANCREATIC DYSFUNCTION; SYNDROME PROTEIN; HEMATOPOIETIC PROGENITORS; CONGENITAL NEUTROPENIA; HEPATIC DYSFUNCTION; MITOTIC SPINDLE; SBDS GENE; LEUKEMIA;

D O I：

10.1016/j.hoc.2009.01.007

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Shwachman-Diamond syndrome is a rare autosomal-recessive, multisystem disease characterized by exocrine pancreatic insufficiency, impaired hematopoiesis, and leukemia predisposition. Other clinical features include skeletal, immunologic, hepatic, and cardiac disorders. This article focuses on the clinical presentation, diagnostic work-up, clinical management, and treatment of patients with Shwachman-Diamond syndrome.

引用

页码：233 / +

页数：17

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