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Autosomal Dominant Polycystic Kidney and Liver Diseases: Links and Disparities


自體顯性多囊腎臟病(autosomal dominant polycystic kidney disease, ADPKD)為最常見的遺傳性腎疾病,而多囊肝(polycystic liver disease, PLD)則是ADPKD最常見之腎外表現。有的ADPKD會伴隨全面性肝囊腫,有的卻無肝臟侵犯,還有一部分只有肝囊腫卻無腎囊腫。由基因型的不同可分為三大類:第一類以ADPKD表現為主,包括polycystin 1, transient receptor potential channel interacting(PKD1)、polycystin 2、transient receptor potential cation channel(PKD2)、glucosidase II α subunit(GANAB);第二類以多囊肝為主,基因有protein kinase C substrate 80K-H(PRKCSH)、SEC63 homolog, protein translocation regulator(SEC63)、LDL receptor related protein 5(LRP5)、ALG8 α-1,3-glucosyltransferase(ALG8)、SEC61 translocon subunit β(SEC61B)與GANAB。第一類除了GANAB之外,其餘腎臟預後皆較差,尤其是PKD1。第二類之腎臟囊腫與腎衰竭機率都較少。另有第三類,為PKD1或PKD2發生兩個等位基因突變,在嬰兒時期即有嚴重症狀,預後最差。對於這群病人應早期執行基因診斷並制定完善的治療與生育計畫。

Parallel abstracts

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disease, and polycystic liver disease (PLD) is the most often encountered extrarenal manifestation. Some ADPKDs are associated with extensive liver cysts, whereas others are not. To the contrary, some patients with PLD show nil or some renal cysts. Are there any genetic disparities among them? The mutated genes can be grossly divided into three groups. In Group I, transient receptor potential channel interacting (PKD1), transient receptor potential cation channel (PKD2), and glucosidase II α subunit (GANAB) present with renal cysts mainly, while in group II, protein kinase C substrate 80K-H (PRKCSH), SEC63 homolog, protein translocation regulator (SEC63), LDL receptor related protein 5 (LRP5), ALG8 α-1,3-glucosyltransferase (ALG8), SEC61 translocon subunit β(SEC61B), and GANAB manifest with liver cysts predominantly. Compared to the group II, group I had a grave renal outcome, especially in PKD1. As for Group III, two alleles mutated in the same gene, which is of the worst prognosis. Therefore, it is indicated for these polycystic patients for early genetic counseling, treatment strategies, and childbirth plans.