Lücke Thomas, Kanzelmeyer Nele, Franke Doris, Hartmann Hans, Ehrich Jochen H H, Das Anibh M
Kinderklinik Abteilung II, Medizinische Hochschule, 30625 Hannover.
Med Klin (Munich). 2006 Mar 15;101(3):208-11. doi: 10.1007/s00063-006-1026-8.
Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive multisystemic disorder caused by mutations of the SMARCAL 1 gene (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1).
Main clinical features are: disproportional growth deficiency due to spondyloepiphyseal dysplasia, nephrotic syndrome with focal and segmental glomerulosclerosis, and defective cellular immunity. Patients with severe SIOD have life-limiting complications like cerebral ischemia due to vaso-occlusive processes. Only a few patients reached adulthood.
The clinical course of four adult SIOD patients is presented.
Even patients with severe SIOD can reach adulthood. Therefore, doctors working in the field of internal medicine and family doctors should be familiar with the clinical picture of SIOD.
施姆克免疫性骨发育不良（SIOD）是一种罕见的常染色体隐性多系统疾病，由SMARCAL 1基因（SWI/SNF相关、基质相关、肌动蛋白依赖性染色质调节因子，a亚家族样1）突变引起。
主要临床特征为：由于脊椎骨骺发育不良导致的不成比例生长发育迟缓、伴有局灶节段性肾小球硬化的肾病综合征以及细胞免疫缺陷。严重SIOD患者会出现如血管闭塞性病变导致的脑缺血等危及生命的并发症。仅有少数患者活到成年。
介绍了4例成年SIOD患者的临床病程。
即使是严重SIOD患者也可活到成年。因此，内科医生和家庭医生应熟悉SIOD的临床表现。
