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近来遗传性间质性肾炎致病基因的研究取得一些进展,已发现常染色体隐性遗传的肾单位肾痨(NPHP)致病基因20种。另外,改善全球肾脏病预后组织(KDIGO)提出了常染色体显性遗传性肾小管间质性肾病(ADTKD)的新定义及其诊断标准[1],现已发现4种ADTKD的致病基因(MUC1,UMOD,REN,HNF1B)。通过对上述致病基因的研究,探讨其可能导致的病理改变及临床症状,对遗传性间质性肾炎的预防、基因诊断、治疗、预后具有重要意义。
Recently, some progresses have been made in the study of the causative genes of hereditary interstitial nephritis. Twenty kinds of neoplastic autonomic nephrotic nephrology (NPHP) genes have been found. In addition, to improve the global prognosis of kidney disease (KDIGO) proposed a new definition of autosomal dominant renal tubular interstitial nephropathy (ADTKD) and its diagnostic criteria [1], has been found in four ADTKD pathogenic genes MUC1, UMOD, REN, HNF1B). Through the study of the above pathogenic genes to explore the possible pathological changes and clinical symptoms, the prevention of genetic interstitial nephritis, gene diagnosis, treatment, prognosis of great significance.