基因检测在慢性肾脏病诊治中的应用及进展

摘要/Abstract

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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.

图/表1

表1

CKD患者常见致病基因[12]

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

表1

参考文献29

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基因检测在慢性肾脏病诊治中的应用及进展

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