Department of Rheumatology and Immunology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Department of Genetics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Am J Med Genet A. 2021 Oct;185(10):3074-3082. doi: 10.1002/ajmg.a.62367. Epub 2021 May 28.
PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome caused by mutations in PSTPIP1 is a rare inflammatory disorder that can be easily misdiagnosed. It is characterized by anemia, arthritis, cutaneous inflammation, recurrent infections, growth failure, hepatosplenomegaly, lymphadenopathy, hyperzincemia/hypercalprotectinemia, neutropenia, thrombocytopenia, and elevated inflammatory indicators. This study describes the cases of two pediatric female patients with long-standing recurrent arthralgia in different parts of the extremities and severe anemia, respectively, who were misdiagnosed and treated for aseptic necrosis of the femoral head and severe autoimmune hemolytic anemia, respectively. High-throughput sequencing analysis revealed a de novo heterozygous missense mutation (c.748G > A, p. Glu250Lys) in exon 11 of PSTPIP1 (NM_003978.5) in both patients, which supported a diagnosis of PAMI. The patients were treated with prednisone and etanercept, which improved their symptoms, but neutropenia remained unchanged. These cases highlight the importance of genetic assessment for the accurate diagnosis of PAMI and to ensure adequate and timely treatment of these patients.
PSTPIP1 相关髓系相关蛋白血症炎症（PAMI）综合征是一种由 PSTPIP1 突变引起的罕见炎症性疾病，容易误诊。其特征为贫血、关节炎、皮肤炎症、反复感染、生长发育不良、肝脾肿大、淋巴结病、高锌血症/高钙卫蛋白血症、中性粒细胞减少症、血小板减少症和炎症指标升高。本研究描述了两例儿科女性患者的病例，分别为长期反复发作的四肢不同部位关节炎和严重贫血，分别误诊为股骨头无菌性坏死和严重自身免疫性溶血性贫血，并进行了治疗。高通量测序分析显示，两名患者 PSTPIP1（NM_003978.5）第 11 外显子均存在从头杂合错义突变（c.748G>A，p.Glu250Lys），支持 PAMI 的诊断。患者接受了泼尼松和依那西普治疗，症状有所改善，但中性粒细胞减少仍未改变。这些病例强调了遗传评估对于准确诊断 PAMI 以及确保这些患者得到充分和及时治疗的重要性。
