Senior-Boichis综合征
Senior-Boichis syndrome
ORPHA:84081疾病
定义 英文原文（暂无中文）
A rare ciliopathy characterized by the association of nephronophthisis and liver fibrosis. Renal manifestations include chronic renal failure, polyuria, polydipsia, anemia, as well as increased echogenicity on renal ultrasound and interstitial fibrosis and tubular dilation on biopsy. Hepatic involvement manifests as hepatosplenomegaly with extensive fibrosis, destruction of the bile ducts, and cholestasis. Mild psychomotor retardation and ocular symptoms, such as strabismus, nystagmus, retinal degeneration, and anisocoria, have been reported in some patients.
别名
肾消耗病-肝纤维化综合征
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 各年龄段
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| TMEM67 | transmembrane protein 67 | Disease-causing germline mutation(s) in |
| DCDC2 | doublecortin domain containing 2 | Disease-causing germline mutation(s) in |
临床表型 34
常见 79–30%20
- 肾间质形态异常 HP:0032581
- 尿电解质浓度异常 HP:0012591
- 胆汁淤积 HP:0001396
- 慢性肾病 HP:0012622
- 碱性磷酸酶升高 HP:0003155
- 循环肝转氨酶水平升高 HP:0002910
- 肝纤维化 HP:0001395
- 肝脾肿大 HP:0001433
- 肾脏回声增强 HP:0004719
- 高血压 HP:0000822
- 总胆红素增加 HP:0003573
- 肝管板畸形 HP:0006563
- 烦渴 HP:0001959
- 门脉高压 HP:0001409
- 肝内胆管数量减少 HP:0006571
- 肾皮髓质分界模糊 HP:0005565
- 肾皮髓质交界处囊肿 HP:0000108
- 肾发育不全 HP:0000089
- 肾小管基底膜增厚 HP:0020132
- 肾小管腔扩张 HP:0032622
偶见 29–5%14
- 脑白质形态异常 HP:0002500
- 攻击性行为 HP:0000718
- 焦虑不安 HP:0000713
- 贫血 HP:0001903
- 腹水 HP:0001541
- 注意力缺陷多动障碍 HP:0007018
- 颈动脉扩张 HP:0012163
- 肝硬化 HP:0001394
- 先天性肝纤维化 HP:0002612
- 弥漫性脑萎缩 HP:0002506
- 食管静脉曲张 HP:0002040
- 肾萎缩 HP:0012585
- 慢性肾病5期 HP:0003774
- 自杀意念 HP:0031589
外部标识与链接
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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）