关键词: 遗传性肾间质疾病, 髓质囊性肾病, 尿调节蛋白相关肾疾病

Abstract:

【Abstract】 The incidence of hereditary renal interstitial disease is lower which is usually insidious onset. The patient may have symptoms of renal tubular dysfunction concentration, can also be non-specific clinical manifestations, eventually progress to chronic renal failure. It still lacks conventional means of diagnosis, easy misdiagnosis, and missed diagnosis. The diagnosis mainly relies on clinical performance and clear of family history, as well as the clinician awareness of the disease. So it is particularly important to obtain a detailed family history and clinical data of the sick members, while to make sure diagnosis also depends on the genetic linkage and mutation related testing. To increase awareness of clinicians to hereditary interstitial kidney disease may help to improve the clinical diagnosis of the disease.

Key words: Hereditary Interstitial Kidney Disease, Medullary cystic kidney disease, Uromodulin-associated kidney disease