遗传性肾间质疾病的发病率低,通常起病隐匿,患者可无特异性临床表现,部分患者可有肾小管浓缩功能减退,最终进展为慢性肾衰竭。该病的诊断主要依靠临床表现和明确的家族史,依赖临床医师对疾病的认识,及对基因连锁、变异进行相关检测是确诊的依据。无确切的诊断手段,因此,易误诊、漏诊。 The incidence of hereditary renal interstitial disease is low, usually occult onset, the patient may have no specific clinical manifestations, some patients may have renal tubular concentration decreased, the final progress of chronic renal failure. The diagnosis of the disease depends mainly on clinical manifestations and a clear family history, relying on clinicians to understand the disease, and genetic linkage, mutation detection is the basis for the diagnosis. No exact diagnostic tools, therefore, misdiagnosis, missed diagnosis.