Shwachman-Diamond综合症(SDS)rare, inherited bone marrow failure, characterized by a low number of white blood cells, poor growth due to difficulty absorbing food, and, in some cases, skeletal abnormalities. SDS is named for Boston Children's Hospital doctors Harry Shwachman, MD, and Louis Diamond, MD, who were among the researchers to first describe the condition in 1964. Most infants with SDS are born with the condition, with symptoms usually appearing by 4 to 6 months of age.
借助现代治疗选择和持续的管理，大多数患有SDS的儿童通常需要通过医院就诊进行常规药物和定期监测。这些通常是对没有任何重大问题的儿童的年度访问，或者对于那些并发症患者而言。
Children with SDS have a small but significant chance of developing blood disorders such asmyelodysplastic syndrome (MDS)或者白血病。近5％的患有这种疾病的儿童将发展为白血病，成年后风险升至25％。
In addition, recurring infections, including肺炎,耳朵, and skin infections, are common. Many children with SDS also have growth problems and vitamin A, D, E, and K deficiencies.
What are the symptoms of Shwachman-Diamond syndrome?
Shwachman-Diamond综合征（SDS）的症状可能因儿童而异，但会影响多种身体系统，包括骨髓，胰腺和骨骼，偶尔以及肝脏和牙齿。SDS最常见的症状是：
- 慢性的腹泻
- 由于白细胞计数低而引起的经常感染
- 增长不佳
- pale skin
- 缺乏能量或轻松疲倦（fatigue)
- bruising, or a red or purple pinpoint rash on the face or body
- 流血（例如流血的牙龈，流鼻血，粪便中的血液）
- 骨骼异常，包括生长板的变化，肋骨畸形，脊柱侧弯（脊柱的曲率），牙齿发育延迟，牙科，cavities, and gum problems
Aftercystic fibrosis, SDS is the next most common cause of pancreatic insufficiency, which makes it difficult for patients to digest and absorb food.
Other signs can include:
是什么原因导致SD？
SDS是由称为SBD的基因中的突变引起的。SDS是一种隐性遗传疾病，这意味着孩子必须继承两个基因的有缺陷的副本（一个来自每个父母）才能发展出疾病。在大多数情况下，父母没有表现出综合症的迹象。
基因检测can identify the precise mutation in about 90 percent of children with SDS. It is believed that an as-yet-unidentified gene is responsible for the remaining 10 percent.
我们如何关心SDS
Children with SDS are treated atDana-Farber/Boston Children's Cancer and Blood Disorders Centerthrough our骨髓衰竭和骨髓增生综合征计划, recognized as one of the nation’s best pediatric treatment and research programs for bone marrow failure and related conditions. Our patients have access to advanced treatments and diagnosis, including DNA mutation identification and ongoingclinical trials调查新疗法。
我们的SDS研究领域
除了提供信息和访问本地和国家研究计划外，我们的诊所还为SDS患者提供多学科护理（医师专家，牙医，护士从业人员，社会工作者）和咨询服务。
Dana-Farber/Boston Children's is a leading member of theSDS Registry, which works with patients to collect blood and bone marrow for SDS research. Collections and registries like this help researchers and physicians better understand genetic and molecular aspects of disease and how they relate to patients' clinical outcomes — first steps to identifying possible new treatments. In addition, Dana-Farber/Boston Children's physician-scientists are investigating the role of molecules called microRNAs, which can control how genes are expressed, in SDS.
