Eckstein J D, Filip D J, Watts J C
Ann Intern Med. 1975 May;82(5):639-45. doi: 10.7326/0003-4819-82-5-639.
The syndrome of hereditary thrombocytopenia, deafness, and renal disease was manifest in at least eight members in three generations of a family. They had a lifelong history of bleeding, usually as epistaxis, bilateral sensorineural deafness starting in late childhood or the teenage years, and persistent proteinuria with varying degrees of renal dysfunction. Two members died at a young age, one from central nervous system hemorrhage, the other from chronic renal failure. Splenectomy and steroid therapy have been of transient benefit. There was dominant inheritance of the syndrome. Hematologic studies showed thrombocytopenia, large platelets, and megakaryocytic hyperplasia of the bone marrow. In contrast to a previous report, our studies showed that affected members had normal in-vitro platelet function and normal ultrastructural platelet morphology. At autopsy, histologic changes in the kidney of one affected family member were indistinguishable from those reported in classic hereditary nephritis with nerve deafness (Alport's syndrome).
遗传性血小板减少、耳聋和肾病综合征在一个家族的三代人中至少有八名成员出现。他们有终生出血史，通常表现为鼻出血，从儿童晚期或青少年时期开始出现双侧感音神经性耳聋，以及伴有不同程度肾功能不全的持续性蛋白尿。两名成员在年轻时死亡，一名死于中枢神经系统出血，另一名死于慢性肾衰竭。脾切除术和类固醇治疗仅带来短暂益处。该综合征为显性遗传。血液学研究显示血小板减少、血小板体积增大以及骨髓巨核细胞增生。与之前的一份报告不同，我们的研究表明，受影响成员的体外血小板功能正常，血小板超微结构形态也正常。尸检时，一名受影响家庭成员的肾脏组织学变化与经典的伴有神经性耳聋的遗传性肾炎（阿尔波特综合征）所报告的变化无法区分。
