Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease (PKD4)

多囊肾4型伴有或不伴有多囊肝(来自ICD-11)

别称:

Autosomal Recessive Polycystic Kidney Disease

Arpkd

Polycystic Kidney Disease, Autosomal Recessive

Polycystic Kidney Disease, Infantile, Type I

Polycystic Kidney and Hepatic Disease 1

Polycystic Kidney Disease 4 with or Without Hepatic Disease

Pkhd1

Polycystic Kidney, Autosomal Recessive

Pkd3, Formerly

Ar-Pkd

Pkd4

Polycystic Kidney Disease 4, with or Without Polycystic Liver Disease

Kidney, Polycystic, Disease, Type 4, with/without Hepatic Disease

Polycystic Kidney Disease 4, with or Without Hepatic Disease

Polycystic Kidney Disease 3, Autosomal Dominant

Infantile Polycystic Kidney Disease Type I

Polycystic Kidney Disease 4

Arpkd/chf

Pkd3

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

多囊肾病4型，伴有或不伴有多囊肝，也称为常染色体隐性多囊肾病，与多囊肾病和多囊肾病4型有关。与多囊肾病4型，伴有或不伴有多囊肝有关的重要基因是PKHD1（PKHD1纤毛IPT域含纤维囊蛋白/多导蛋白），其相关通路/超通路包括细胞器生物发生和维护以及向周纤毛膜的货物运输。在该疾病的背景下提到了托伐普坦和血管加压素。附属组织包括肾脏和肝脏，相关表型为高血压和肝纤维化。

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