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[费希特纳综合征:两个家族的报告及相关疾病文献综述]

[Fechtner syndrome: report of two families and review of the literature on the related disorders].

作者信息

Takai K, Sanada M, Hattori A, Koike T, Shibata A

出版信息

Nihon Ketsueki Gakkai Zasshi. 1989 May;52(3):644-54.

PMID:2559568
Abstract

Two families who had been reported as having May-Hegglin anomaly were diagnosed as having Fechtner syndrome based on complication of renal disease, deafness and characteristic leukocyte inclusions. By Wright-Giemsa staining, the inclusions of neutrophils were smaller and stained less clearly than those seen in May-Hegglin anomaly. Ultrastructurally, the inclusions consisted of organelle-poor cytoplasm, containing small particles, which were probably ribosomes. Some inclusions contained only a few filaments or small remnants of rough endoplasmic reticulum (RER). The latter resembled the findings observed in Fechtner syndrome. They lacked the parallel arrays of filaments characteristic of May-Hegglin anomaly and the parallel strands of RER seen in toxic Döhle bodies. Renal disorders ranged from microscopic hematuria to renal failure requiring dialysis in one family and persistent proteinuria in the other family. Deafness was sensorineural type or combined type due to otitis media. Except for the fact that they lacked congenital cataracta, the findings in these two families were consistent with those in Fechtner syndrome.

摘要

有两个曾被报告患有May-Hegglin异常的家族,基于肾脏疾病、耳聋及特征性白细胞包涵体等并发症,被诊断为患有Fechtner综合征。通过瑞氏-吉姆萨染色,中性粒细胞的包涵体比May-Hegglin异常中所见的更小且染色更不清晰。超微结构上,包涵体由细胞器较少的细胞质组成,含有小颗粒,这些小颗粒可能是核糖体。一些包涵体仅含有少数细丝或粗糙内质网(RER)的小残余物。后者类似于在Fechtner综合征中观察到的结果。它们缺乏May-Hegglin异常特有的细丝平行排列以及毒性杜勒小体中所见的RER平行链。肾脏疾病范围从镜下血尿到一个家族中需要透析的肾衰竭以及另一个家族中的持续性蛋白尿。耳聋为感音神经性或因中耳炎导致的混合型。除了缺乏先天性白内障这一事实外,这两个家族的发现与Fechtner综合征中的发现一致。

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