Abstract：
Karyomegalic interstitial nephritis is a rare, but perhaps an \"underdiagnosed\" condition. Peculiar nuclear changes characterize it, involving mainly tubular cells along with glomeruli and blood vessels. Herein, 3 bioptically proven new cases of patients with chronic renal failure are discussed. The first case had a recently diagnosed karyomegalic nephritis which, to date, still does not require dialysis. The other 2 (brother and sister) required dialysis 4 and 1 years after diagnosis. Karyomegalic changes were found not only in the skin and duodenal biopsies of the male, in skin and liver biopsies of the female and in the urine cells of both patients, but also in several organs (brain, thyroid, lung, esophagus, arteries) as shown at the autopsy of the female. There was a fatal outcome for both patients. The data reported in this study emphasize the usefulness of pathologic investigation of both tissue and urine samples in the identification of this disease. Moreover, as karyomegalic interstitial nephritis is strongly suspected to have a genetic background, its identification may well not only be of clinical relevance, due to its ominous outcome, but may also bear eugenetic value.
摘要：
核型间质性肾炎是一种罕见的，但也许是“未被诊断”的情况。特殊的核变化是它的特征，主要涉及肾小管细胞以及肾小球和血管。在这里，讨论了3例经生物证实的慢性肾衰竭患者的新病例。第一例最近诊断为核型巨肾炎，到目前为止,仍然不需要透析。另外2人（兄弟姐妹）在诊断后4年和1年需要透析。不仅在男性的皮肤和十二指肠活检中发现了核型改变，在女性的皮肤和肝脏活检以及两名患者的尿液细胞中，而且在几个器官(大脑，甲状腺，肺，食道,动脉）如女性尸检所示。两名患者都有致命的结果。本研究报告的数据强调了组织和尿液样本的病理检查在鉴定这种疾病中的有用性。此外，因为核型间质性肾炎被强烈怀疑有遗传背景，它的鉴定可能不仅具有临床意义，由于其不祥的结果，但也可能具有优生价值。
