不明意义克隆性细胞减少症和不典型贝切特病：锌的重要性。
Clonal cytopenia of undetermined significance and atypical Behçet's: the importance of zinc.
机构信息
School of Medicine, Curtin University, Bentley, Western Australia, Australia.
Molecular Haematology, PathWest Laboratory Medical WA, Murdoch, Western Australia, Australia.
出版信息
BMJ Case Rep. 2022 Mar 29;15(3):e247154. doi: 10.1136/bcr-2021-247154.
Atypical Behçet's is recognised in myelodysplastic syndrome (MDS) cases and is associated with trisomy 8. Clonal cytopenia of undetermined significance (CCUS) is recognised as a precursor to MDS. Our case describes the presentation of atypical Behçet's, in association with CCUS, post a Streptococcal infection. A mutation of a zinc finger RNA spliceosome, ZRSR2, is also described. Our patient initially presented with macrocytic anaemia, together with neutropenia and lymphocytopenia on routine monitoring. Later gastrointestinal symptoms together with oral and anal ulcerations developed. He was treated with oral zinc therapy and had resolution of recurrent oral ulcerations and significant reduction in severity of anal ulcerations. The functional impact of ZRSR2 mutation on spliceosome assembly is yet to be defined, but has been previously reported in CCUS with a clinical phenotype of macrocytic anaemia.
不典型贝切特综合征在骨髓增生异常综合征（MDS）病例中被识别出来，与 8 号三体有关。未确定意义的克隆性血细胞减少症（CCUS）被认为是 MDS 的前兆。我们的病例描述了链球菌感染后，与 CCUS 相关的不典型贝切特综合征的表现。锌指 RNA 剪接体 ZRSR2 的突变也被描述。我们的患者最初表现为巨细胞性贫血，同时在常规监测中出现中性粒细胞减少和淋巴细胞减少。后来出现胃肠道症状以及口腔和肛门溃疡。他接受了口服锌治疗，复发性口腔溃疡得到缓解，肛门溃疡的严重程度显著减轻。ZRSR2 突变对剪接体组装的功能影响尚未确定，但之前在伴有巨细胞性贫血临床表型的 CCUS 中已有报道。
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