Basiratnia Mitra, Baradaran-Heravi Alireza, Yavarian Majid, Geramizadeh Bita, Karimi Mehran
Shiraz Nephrology-Urology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Iran J Med Sci. 2011 Sep;36(3):222-5.
Schimke immuno-osseous dysplasia is a rare autosomal recessive multisystem disorder characterized by steroid-resistant nephrotic syndrome, immunodeficiency, and spondyloepiphyseal dysplasia. Mutations in SWI/SNF2 related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) gene are responsible for the disease. The present report describes, for the first time, a Schimke immuno-osseous dysplasia child with SMARCAL1 missense mutation (R561H) and manifestations of intussusception secondary to Epstein-Barr virus-negative non-Hodgkin lymphoma, who expired due to septicemia following chemotherapy. The report emphasizes the necessity of more limited immunosuppressive protocols in Schimke immuno-osseous dysplasia patients with lymphoproliferative disorders.
施姆克免疫性骨发育不良是一种罕见的常染色体隐性多系统疾病，其特征为类固醇抵抗性肾病综合征、免疫缺陷和脊椎骨骺发育不良。SWI/SNF2相关、基质相关、肌动蛋白依赖性染色质调节因子a样1（SMARCAL1）基因突变是导致该疾病的原因。本报告首次描述了一名患有SMARCAL1错义突变（R561H）的施姆克免疫性骨发育不良儿童，该儿童继发于爱泼斯坦-巴尔病毒阴性非霍奇金淋巴瘤的肠套叠，在化疗后因败血症死亡。该报告强调了对患有淋巴增殖性疾病的施姆克免疫性骨发育不良患者采用更有限的免疫抑制方案的必要性。
