巨核细胞性间质性肾炎研究进展

Research progress of karyomegalic interstitial nephritis

巨核细胞性间质性肾炎是一种罕见的常染色体隐性遗传性肾小管间质疾病。通常表现为缓慢进展的慢性肾疾病,导致成年早期终末期肾功能障碍,部分患者可合并其他肾小球疾病。肾病理特征性改变为肾小管上皮细胞核体积明显增大,细胞核深染,外形轮廓不规则,呈灶性分布。病理上需与其他病因导致肾小管上皮细胞核增大相鉴别。FAN1基因突变是诊断金标准。临床上对于肾病理见肾小管上皮细胞核增大患者,及早完善基因检测,以避免漏诊和误诊。目前尚无有效的治疗手段。文章主要就其发病机制、临床特点及治疗进行综述。

Megakaryocytic interstitial nephritis is an uncommon autosomal recessive hereditary renal tubular interstitial disease.KIN usually presents as a slowly progressing chronic kidney disease leading to end stage renal dysfunction in early adulthood and some patients may be combined with other glomerular diseases.Karyomegalic tubular epithelial cells are characterized by markedly enlarged nuclei with irregular outlines,and hyperchromatic and prominent nucleoli.It should be distinguished from other causes of renal tubular epithelial cell nuclear enlargement.FAN1 gene mutation is the gold standard for diagnosis.Early genetic testing can make a correct diagnosis.At present,there is no effective treatment.This article mainly reviews the pathogenesis,clinical features and treatment of KIN.