一.总述 先天性中性粒细胞减少伴胰腺机能不全综合征是由Shwachman1964年报告的,故也称 Shwachman综合征、Shwachman-Diamond综合征。本征为先天性胰腺功能不全,同时伴有骨髓造血系统的发育不全。多在2～10个月婴幼儿发病,有家族性发病倾向,可能...
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...
必应词典为您提供Shwachman-Diamond-Syndrome的释义,网络释义: 髓增生异常症候症;舒-戴二氏综合征;
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...
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 ...
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...
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1型(Shwachman-Diamond Syndrome 1)致病性靶点与针对病因的技术 Shwachman-Diamond综合征1型是一种罕见的遗传性疾病,主要影响胰腺、骨髓和骨骼等器官。该疾病的致病性靶点主要涉及到SBDS基因的突变,该基因编码的蛋白质在细胞核和胞质中都有表达,参与到核糖体生物合成的过程中。SBDS蛋白质的功能主要...
Shwachman-Diamond syndromeSBDSDNAJC21bone marrow failureribosomopathiesleukemiaHSCTMyelodysplastic syndromes (MDS) belong to the most frequent bone marrow disorders with a median age about 70 years. The diagnosis of MDS relies on morphologic features of dysplasia of blood and marrow cytology and ...
Daniel C. Link 68Accesses Synonyms Shwachman-Bodian diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Congenital lipomatosis of the pancreas; SDS Definition and Characteristics SDS is an autosomal recessive multisystem disorder characterized by exocrine pancreatic insufficiency, bone marrow...