诊断学理论与实践 ›› 2020, Vol. 19 ›› Issue (06): 613-617.doi: 10.16150/j.1671-2870.2020.06.013
收稿日期:
2020-05-30
出版日期:
2020-12-25
发布日期:
2022-07-14
通讯作者:
谢静远
E-mail:nephroxie@163.com
基金资助:
Received:
2020-05-30
Online:
2020-12-25
Published:
2022-07-14
中图分类号:
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.
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 |
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