常染色体显性多囊肾病
Autosomal dominant polycystic kidney disease
ORPHA:730疾病
定义 英文原文（暂无中文）
A rare, genetic, renal tubular disease characterized by progressive outgrowths of fluid-filled cysts from the renal epithelium, which can manifest with hematuria, urinary tract infections, hypertension, and abdominal or flank pain. The slowly progressive loss of kidney function may evolve to end stage kidney disease (ESKD).
别名
ADPKD
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 青少年期、成年期、儿童期
- 患病率
- 1-5 / 10 000（Europe）
相关基因 9
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PKD1 | polycystin 1, transient receptor potential channel interacting | Disease-causing germline mutation(s) in |
| PKD2 | polycystin 2, transient receptor potential cation channel | Disease-causing germline mutation(s) in |
| ALG9 | ALG9 alpha-1,2-mannosyltransferase | Disease-causing germline mutation(s) (loss of function) in |
| NEK8 | NIMA related kinase 8 | Disease-causing germline mutation(s) in |
| BICC1 | BicC family RNA binding protein 1 | Candidate gene tested in |
| IFT140 | intraflagellar transport 140 | Disease-causing germline mutation(s) (loss of function) in |
| GANAB | glucosidase II alpha subunit | Disease-causing germline mutation(s) in |
| DNAJB11 | DnaJ heat shock protein family (Hsp40) member B11 | Disease-causing germline mutation(s) (loss of function) in |
| ALG5 | ALG5 dolichyl-phosphate beta-glucosyltransferase | Disease-causing germline mutation(s) in |
临床表型 26
极常见 99–80%5
- 肾小球滤过率下降 HP:0012213
- 血清肌酐水平升高 HP:0003259
- 肝囊肿 HP:0001407
- 肾囊肿 HP:0000107
- 肾功能不全 HP:0000083
常见 79–30%7
- 尿电解质浓度异常 HP:0012591
- 蛋白尿 HP:0012592
- 慢性肾病 HP:0012622
- 侧腹疼痛 HP:0030157
- 血尿 HP:0000790
- 高血压 HP:0000822
- 慢性肾病5期 HP:0003774
偶见 29–5%13
- 全身动脉形态异常 HP:0011004
- 主动脉根部瘤 HP:0002616
- 蛛网膜囊肿 HP:0100702
- 草酸钙肾结石 HP:0008672
- 脑动脉扩张 HP:0004944
- 肾脏肿大 HP:0000105
- 二尖瓣脱垂 HP:0001634
- 胰腺囊肿 HP:0001737
- 多囊性肝病 HP:0006557
- 肾盂肾炎 HP:0012330
- 复发性尿路感染 HP:0000010
- 精子活力降低 HP:0012207
- 肾尿酸结石 HP:0000791
罕见 <4–1%1
- 垂体生长激素腺瘤 HP:0011760
外部标识与链接
OrphanetOMIM:173900OMIM:600666OMIM:613095MONDO:0004691GARD:10413ICD-10 Q61.2ICD-11 GB81ClinicalTrials.gov 检索
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）