Alhindawi Esam, Al-Jbour Samah
Pediatric Department, King Hussein Medical Center, Amman, Jordan.
Saudi J Kidney Dis Transpl. 2009 Nov;20(6):1076-8.
The association of haematological abnormalities and hereditary nephritis is rare; it is mainly included in a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly, Fechtner, Sebastian, Epstein and Alport syndrome with macro thrombocytopenia. We are presenting a missed case of a boy who presented with epistaxis and his diagnostic work up revealed macrothrombocytopenia, sensorineural hearing loss and chronic nephropathy which constitute the Epstein syndrome, with rapid deterioration of kidney function.
血液学异常与遗传性肾炎的关联较为罕见；它主要包含在一系列常染色体显性遗传性巨血小板减少症中：May-Hegglin异常、Fechtner综合征、Sebastian综合征、Epstein综合征以及伴有巨血小板减少症的Alport综合征。我们报告一例漏诊病例，该男孩表现为鼻出血，其诊断检查显示存在巨血小板减少症、感音神经性听力损失和慢性肾病，这些构成了Epstein综合征，且肾功能迅速恶化。
