基因检测在慢性肾脏病诊治中的应用及进展

doi:10.16150/j.1671-2870.2020.06.013

摘要/Abstract

中图分类号:

R692

余舒文, 方正滢, 谢静远. 基因检测在慢性肾脏病诊治中的应用及进展[J]. 诊断学理论与实践, 2020, 19(06): 613-617.

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参考文献 29

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遗传方式	常见致病基因(OMIM)	疾病名称	疾病亚类
常染色体显性遗传	TRPC6 (603965)、INF2 (613237)、PAX2 (616002)	FSGS、SRNS	肾小球疾病
	COL4A3 (104200)、COL4A4 (203780,141200)	ADAS、TBMD	肾小球疾病
	UMOD (609886)	ADTKD	肾小管间质疾病
	SLC3A1 (220100)	胱氨酸尿	肾小管间质疾病
	PKD1 (173900)、PKD2 (613095)	ADPKD	囊肿性疾病
	EYA1 (113650)	鳃-耳-肾综合征	其他
	HNF1A (600496)	MODY-Ⅲ	其他
	CREBBP (180849)	Rubinstein-Taybi综合征	其他
	AVP (125700)	垂体性尿崩症	其他
常染色体隐性遗传	NPHS2 (600995)、NPHS1 (256300)、CRB2 (616220)	FSGS、SRNS	肾小球疾病
	COL4A3、COL4A4 (203780)	ARAS	肾小球疾病
	SLC12A3 (263800)	Gitelman综合征	肾小管间质疾病
	NPHP3 (604387)、NPHP4 (606966)	肾单位肾痨	囊肿性疾病
	PKHD1 (263200)	ARPKD	囊肿性疾病
	DHCR7 (270400)	Smith-Lemli-Opitz 综合征	其他
伴性遗传	COL4A5 (301050)	XLAS	肾小球疾病
	GLA (301500)	法布雷病	肾小球疾病
	CLCN5 (300009)	Dent病	肾小管疾病

基因检测在慢性肾脏病诊治中的应用及进展

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