Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry.
Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry.
复制标题
DOI：
10.1016/j.jpeds.2013.11.039
复制
发表时间：
2014-04
期刊：
影响因子：
--
通讯作者：
Shimamura A
中科院分区：
文献类型：
--
作者：
Myers KC;Bolyard AA;Otto B;Wong TE;Jones AT;Harris RE;Davies SM;Dale DC;Shimamura A
探讨Shwachman-Diamond综合征（SDS）的临床表现范围，以提高诊断的长期目标。我们回顾了北美Shwachman-Diamond综合征登记处。37例患者的双等位基因SBDS突变的遗传报告证实了SDS的诊断。中性粒细胞减少症是最常见的血液学异常（30/37，81%）;然而，只有51%（19/37）的患者表现为中性粒细胞减少症和脂肪肝的经典组合。超声或CT扫描无胰腺脂肪增多症，粪便弹性蛋白酶水平正常，骨骼检查正常，不能排除SDS的诊断。SDS在SDS先证者的两个无症状兄弟姐妹中被诊断。37例患者中有24例（65%）存在先天性畸形。我们的队列揭示了广泛的SDS临床表现。SDS的潜在诊断线索包括血细胞减少伴骨髓细胞减少、先天性异常、家族史和SDS中常见的骨髓增生异常伴克隆异常。SDS的经典临床标准的依赖将错过或延迟诊断的SDS患者的重要子集。
To investigate the range of clinical presentations for Shwachman-Diamond syndrome (SDS) with the long-term goal of improving diagnosis. We reviewed the North American Shwachman-Diamond Syndrome Registry. Genetic reports of biallelic SBDS mutations confirming the diagnosis of SDS were available for 37 patients. Neutropenia was the most common hematologic abnormality at presentation (30/37, 81%); however, only 51% (19/37) of patients presented with the classic combination of neutropenia and steatorrhea. Absence of pancreatic lipomatosis on ultrasound or CT scan, normal fecal elastase levels, and normal skeletal survey do not rule out the diagnosis of SDS. SDS was diagnosed in two asymptomatic siblings of SDS probands. Twenty-four of 37 patients (65%) had congenital anomalies. Our cohort reveals a broad range of clinical presentation for SDS. Clues to the underlying diagnosis of SDS included cytopenias with a hypocellular marrow, congenital anomalies, family history, and myelodysplasia with clonal abnormalities frequently found in SDS. Reliance on classic clinical criteria for SDS would miss or delay diagnosis of a significant subset of patients with SDS.
登录
查看更多内容
影响因子：
5.1
作者：
Ip, WF;Dupuis, A;Durie, PR
通讯作者：
Durie, PR
影响因子：
5.1
作者：
Rothbaum, R;Perrault, J;Rossi, T
通讯作者：
Rossi, T
影响因子：
10.5
作者：
Finch, Andrew J.;Hilcenko, Christine;Warren, Alan J.
通讯作者：
Warren, Alan J.
DOI：
10.1016/j.hoc.2012.10.003
发表时间：
2013-03
期刊：
Hematology/oncology clinics of North America
影响因子：
--
作者：
Myers KC;Davies SM;Shimamura A
通讯作者：
Shimamura A
影响因子：
14.8
作者：
Baerlocher, Gabriela M.;Vulto, Irma;Lansdorp, Peter M.
通讯作者：
Lansdorp, Peter M.