遗传性间质性肾炎致病基因研究进展

doi:10.3969/cndt.j.issn.1006-298X.2016.01.013

肾脏病与透析肾移植杂志 ›› 2016, Vol. 25 ›› Issue (1): 57-61.DOI: 10.3969/cndt.j.issn.1006-298X.2016.01.013

遗传性间质性肾炎致病基因研究进展

出版日期:2016-02-26 发布日期:2016-02-04

Advance in research of pathogenic genes in hereditary tubuleinterstitial nephritis

Online:2016-02-26 Published:2016-02-04

摘要/Abstract

摘要：

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。

关键词: 肾单位肾痨, 常染色体显性遗传性肾小管间质性肾病, 肾髓质囊性病, 致病基因

Abstract:

Recently, there has been some new research progresses about pathogenic genes of hereditary tubule-interstitial nephritis, which has been confirmed as 20 kinds of pathogenic genes of nephronophthisis. Kidney Disease: Improving Global Outcomes (KDIGO) proposes adoption of a new terminology “Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD)” and suggests diagnostic criteria for autosomal dominant tubuleinterstitial kidney disease. There has been confirmed as 4 kinds of pathogenic genes of ADTKD (MUC1, UMOD, REN, HNF1B). The study of pathogenic genes, pathologic changes and clinical symptoms has great significance for the prevention, gene diagnosis, treatment and prognosis of hereditary tubule-interstitial nephritis.

乔盼盼, 王朝晖. 遗传性间质性肾炎致病基因研究进展[J]. 肾脏病与透析肾移植杂志, 2016, 25(1): 57-61.

QIAO Panpan,WANG Zhaohui. Advance in research of pathogenic genes in hereditary tubuleinterstitial nephritis[J]. Chinese Journal of Nephrology, Dialysis & Transplantation, 2016, 25(1): 57-61.

ISSN 1006-298X CN 32-1425/R

遗传性间质性肾炎致病基因研究进展

Advance in research of pathogenic genes in hereditary tubuleinterstitial nephritis

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