Ehrich J H, Burchert W, Schirg E, Krull F, Offner G, Hoyer P F, Brodehl J
Children's Hospital, Medizinische Hochschule, Hannover, Germany.
Clin Nephrol. 1995 Feb;43(2):89-95.
Focal segmental glomerulosclerosis, nephrotic syndrome and chronic renal failure were associated with spondyloepiphyseal dysplasia, growth failure, lymphopenia and transient ischemic attacks leading to severe neurological symptoms in three children. Two boys and one girl developed the full syndrome at the age of 5, 6 and 10 years. Positron emission tomography revealed perfusion defects of both cerebral and cerebellar arteries. A variant of the disease was found in two other children who had a nephrotic syndrome and terminal renal failure with only mild spondyloepiphyseal dysplasia, impaired growth and a normal cerebral function. It is concluded that there may be a close association between focal segmental glomerulosclerosis and spondyloepiphyseal dysplasias.
局灶节段性肾小球硬化、肾病综合征和慢性肾衰竭与脊椎骨骺发育不良、生长发育迟缓、淋巴细胞减少以及短暂性脑缺血发作相关，这导致了三名儿童出现严重的神经症状。两名男孩和一名女孩分别在5岁、6岁和10岁时出现了完整的综合征。正电子发射断层扫描显示大脑和小脑动脉灌注缺损。在另外两名患有肾病综合征和终末期肾衰竭的儿童中发现了该疾病的一种变体，他们仅有轻度脊椎骨骺发育不良、生长发育受损但脑功能正常。结论是局灶节段性肾小球硬化与脊椎骨骺发育不良之间可能存在密切关联。
