Bakr Ashraf, Eid Riham, Sarhan Amr, Hammad Ayman, El-Refaey Ahmed Mahmoud, El-Mougy Atef, Zedan Mohammed Magdy, ElHusseini Fatma
Department of Pediatric Nephrology, Mansoura University Children's Hospital, Mansoura, Egypt.
Saudi J Kidney Dis Transpl. 2015 Sep;26(5):987-91. doi: 10.4103/1319-2442.164585.
Schimke immune-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondylo-epiphyseal dysplasia (SED), progressive renal insufficiency beginning as steroid-resistant nephrotic syndrome (SRNS) and defective cellular immunity. This article reports a case from Egypt with a mild form of SIOD. A 14.5-year-old male patient presented with disproportionate short stature, SRNS (focal and segmental glomerulosclerosis), laboratory evidence of cellular immune deficiency and radiologic characteristics of SED. He died at the age of 16.5 years with bone marrow failure and severe pneumonia. To the best of our knowledge, this is the first case of SIOD to be reported from Egypt.
施姆克免疫性骨发育不良（SIOD）是一种罕见的常染色体隐性疾病，其特征为脊椎骨骺发育不良（SED）、起病为类固醇抵抗性肾病综合征（SRNS）的进行性肾功能不全以及细胞免疫缺陷。本文报道了一例来自埃及的轻度SIOD病例。一名14.5岁男性患者表现为身材不成比例矮小、SRNS（局灶节段性肾小球硬化）、细胞免疫缺陷的实验室证据以及SED的影像学特征。他于16.5岁时死于骨髓衰竭和重症肺炎。据我们所知，这是埃及报道的首例SIOD病例。
