%0 Case Reports
%T [Shwachman-Diamond syndrome combined with acute leukemia of ambiguous lineage: a case report].
%A Zheng D
%A Zhu MX
%A Ma L
%A Li QH
%A Dong F
%A Wang J
%A Jing HM
%J Zhonghua Nei Ke Za Zhi
%V 62
%N 2
%D Feb 2023 1
%M 36740411
暂无%R 10.3760/cma.j.cn112138-20220615-00449
%X 报道1例急性双系列白血病，因化疗后血象难以恢复伴胰腺重度脂肪化，行基因检测诊断Shwachman-Diamond综合征。该病临床特征表现为骨髓功能衰竭，胰腺外分泌功能障碍，骨骼异常，恶性肿瘤转化风险，是一种累及多系统的罕见遗传病，需临床医生提高对该病的认识。.