参考资料: Nelson A, Myers K. Shwachman-Diamond Syndrome. 2008 Jul 17 [updated 2018 Oct 18]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. PMID: 20301...
病因 SDS由7号染色体上的Shwachman-Bodian-Diamond syndrome(SBDS)基因突变引发,该基因编码SBDS蛋白并在全身多个脏器系统广泛表达。SBDS蛋白主要参与核糖体的生物合成,同时也在有丝分裂及肌动蛋白的聚合中发挥作用。90%的患者存在定位于7q11的SBDS单基因突变,当SBDS基因突变时造成核糖体成熟缺陷。 诊断 Shwachman-Diamond...
可进展为全血细胞减少,骨髓象表现为再生障碍性贫血(AA)或伴病态造血,并有转化为骨髓增生异常综合征(MyelodysplasticSyndrome,MDS)或急性髓系白血病(Acutemyeloidleukemia,AML)的可能性。 ③骨骼发育异常:约40～80%的SDS患者骨骼发育异常,主要表现为身材矮小,股骨近端和远端干骺端发育异常,二次骨化中心延迟、软骨发育不...
SBDS基因对应的疾病为舒-戴二氏综合征(Shwachman-Diamond Syndrome)是一种多系统常染色体隐性遗传疾病,其特征为外分泌腺功能障碍、骨干骺端发育不良以及不同程度的骨髓功能障碍伴血细胞减少症。右上图为GeneReviews中关于SDS的临床表征描述...
Shwachman-Diamond综合征是英文Shwachman-Diamond syndrome的中文翻译。这一疾病又叫做Congenital Lipomatosis of PancreasMetaphyseal chondrodysplasia, Shwachman typeSDSShwachman-Bodian-Diamond syndromeShwachman-Bodian syndromeShwachman-Diamond-Oski SyndromeShwachman syndrome;Shwachman-Diamond综合征。该病是一种基因病、遗传病...
Shwachman-Diamond综合征(Shwachman-Diamond syndrome, SDS)也称为Shwachman-Bodian-Diamond综合征、Shwachman-Diamond-Oski综合征或Shwachman综合征,它是一种罕见的遗传性骨髓衰竭综合征(inherited bone marrow failure syndrome, IBMFS),特征为胰腺外分泌功能障碍、血细胞减少和骨骼异常。 本专题将讨论SDS的病理生理学、临...
Shwachman-Diamond综合征(Shwachman-Diamond Syndrome, SDS)是一种罕见的遗传性疾病,主要影响儿童。这种疾病通常是由SBDS基因的突变引起的。 SBDS基因是位于人类染色体7上的一个基因,它提供了编码Shwachman-Bodian-Diamond综合征蛋白(SBDS)的指令。这种蛋白在细胞中发挥重要作用,参与蛋白质合成和细胞核内RNA的处理。 当SBD...
Synonyms SDO syndrome , Shwachman-Diamond-Oski syndrome , Shwachman syndrome . Definition An autosomal recessive disorder associated with the triad of neutropenia, pancreatic insufficiency and metaphyseal dysplasia. In addition to neutropenia, which may be intermittent, affected individuals may have varying ...
Shwachman-Diamond综合征(SDS)是一种罕见的多系统受累的常染色体隐性遗传病,临床表现为骨髓造血功能衰竭、胰腺外分泌功能不全和骨骼发育异常,易转化为骨髓增生异常综合征(Myelodysplastic syndrome,MDS)或急性髓细胞白血病(Acute myelogenous leukemia...
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and skeletal abnormalities.[1,2,3]Diagnosis of the condition requires the presence of exocrine pancreatic insufficiency and bone marrow dysfunction; skeletal ab...