Abstract：
ARPKD is a genetically inherited kidney disease that manifests by bilateral enlargement of cystic kidneys and liver fibrosis. It shows a range of severity, with 30% of individuals dying early on and the majority having good prognosis if they survive the first year of life. The reasons for this variability remain unclear. Two genes have been shown to cause ARPKD when mutated, PKHD1, mutations in which lead to most of ARPKD cases and DZIP1L, which is associated with moderate ARPKD. This mini review will explore the genetics of ARPKD and discuss potential genetic modifiers and phenocopies that could affect diagnosis.
摘要：
ARPKD是一种遗传遗传性肾脏疾病，表现为双侧囊性肾脏增大和肝纤维化。它显示了一系列的严重程度，30%的人早期死亡，如果他们存活第一年，大多数人预后良好。这种变异性的原因尚不清楚。两个基因被证明在突变时会引起ARPKD，PKHD1，导致大多数ARPKD病例和DZIP1L的突变，与中度ARPKD相关。这篇小型综述将探讨ARPKD的遗传学，并讨论可能影响诊断的潜在遗传修饰和表型。
