Ateş Esra Arslan, Turkyilmaz Ayberk, Delil Kenan, Alavanda Ceren, Söylemez Mehmet Ali, Geçkinli Bilgen Bilge, Ata Pinar, Arman Ahmet
Department of Medical Genetics, Marmara University Pendik Training and Research Hospital, İstanbul, Turkey.
Department of Medical Genetics, Karadeniz Technical University School of Medicine, Trabzon, Turkey.
Mol Syndromol. 2021 Jun;12(3):179-185. doi: 10.1159/000513611. Epub 2021 Apr 1.
Polycystic kidney disease (PKD) is a life-threatening condition resulting in end-stage renal disease. Two major forms of PKD are defined according to the inheritance pattern. Autosomal dominant PKD (ADPKD) is characterized by renal cysts, where nearly half of the patients suffers from renal failure in the 7th decade of life. Autosomal recessive PKD (ARPKD) is a rarer and more severe form presenting in childhood. Whole-exome sequencing (WES) analyses was performed to investigate molecular causes of the disease in the fetus. In this study, we present 2 fetuses prenatally diagnosed with PKD in a consanguineous family. WES analysis of the second fetus revealed a homozygous variant (c.740+1G>A) in which is related to ADPKD. This study reveals that biallelic mutations may cause an antenatal severe form of ARPKD and contributes to understanding the -related ADPKD phenotype. The possibility of ARPKD due to biallelic mutations in ADPKD genes should be considered in genetic counseling.
多囊肾病（PKD）是一种危及生命的疾病，可导致终末期肾病。根据遗传模式，PKD可分为两种主要类型。常染色体显性多囊肾病（ADPKD）的特征是肾囊肿，近一半的患者在70岁时会出现肾衰竭。常染色体隐性多囊肾病（ARPKD）是一种较罕见且更严重的类型，多在儿童期出现。进行了全外显子组测序（WES）分析以研究胎儿疾病的分子病因。在本研究中，我们报告了一个近亲家庭中2例产前诊断为PKD的胎儿。对第二个胎儿的WES分析发现了一个与ADPKD相关的纯合变异（c.740+1G>A）。本研究表明，双等位基因突变可能导致产前严重形式的ARPKD，并有助于理解相关的ADPKD表型。在遗传咨询中应考虑ADPKD基因双等位基因突变导致ARPKD的可能性。
