Journal of Diagnostics Concepts & Practice ›› 2020, Vol. 19 ›› Issue (06): 613-617.doi: 10.16150/j.1671-2870.2020.06.013
• Review article • Previous Articles Next Articles
Received:2020-05-30
Online:2020-12-25
Published:2022-07-14
CLC Number:
| 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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