Department of Gastroenterology and Hepatology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Eur J Med Genet. 2021 Mar;64(3):104160. doi: 10.1016/j.ejmg.2021.104160. Epub 2021 Feb 6.
The development of a polycystic liver is a characteristic of the monogenic disorders: autosomal dominant polycystic kidney disease (ADPKD), autosomal recessive polycystic kidney disease (ARPKD), and autosomal dominant polycystic liver disease (ADPLD). Respectively two and one genes mainly cause ADPKD and ARPKD. In contrast, ADPLD is caused by at least six different genes which combined do not even explain the disease development in over half of the ADPLD population. Genetic testing is mainly performed to confirm the likelihood of developing PKD and if renal therapy is essential. However, pure ADPLD patients are frequently not genetically screened as knowledge about the genotype-phenotype correlation is currently limited. This paper will clarify the essence of genetic testing in ADPLD patients.
常染色体显性多囊肾病（ADPKD）、常染色体隐性多囊肾病（ARPKD）和常染色体显性多囊肝病（ADPLD）。分别有两个和一个基因主要导致 ADPKD 和 ARPKD。相比之下，ADPLD 由至少六个不同的基因引起，这些基因的组合甚至不能解释超过一半的 ADPLD 患者的疾病发展。基因检测主要用于确认是否有可能患上 PKD 以及是否需要肾脏治疗。然而，由于目前对基因型-表型相关性的了解有限，单纯的 ADPLD 患者通常不会进行基因筛查。本文将阐明 ADPLD 患者基因检测的本质。
