常染色体隐性多囊肾病携带者筛查遗传咨询专家共识《常染色体隐性多囊肾病携带者筛查咨询专家共识》制订组

Expert consensus on genetic counseling of carrier screening for autosomal recessive polycystic kidney disease

摘要:

常染色体隐性多囊肾病（ARPKD）是一种罕见且严重的单基因遗传病，其主要特征是肾脏集合系统囊样扩张，并伴有不同程度的胆囊发育不全、胆管扩张及肝纤维化等。该病通常在围产期或幼儿期发病，患者多在围产期或婴儿期死亡。因此，开展ARPKD携带者筛查，预防生育ARPKD患儿尤为重要。然而，我国在ARPKD遗传咨询能力方面仍存在不足。该共识在参考国内外ARPKD相关研究和指南共识的基础上，系统总结了ARPKD的临床及医学遗传学知识。针对目前ARPKD携带者筛查面临的问题，从筛查方法、适用人群、筛查流程及筛查前后的遗传咨询等方面进行了详细阐述，以规范ARPKD携带者筛查的应用，从而更好地服务于临床实践。

Abstract:

Autosomal recessive polycystic kidney disease （ARPKD） is a rare and severe monogenic hereditary disorder characterized by renal collecting duct cyst formation with varying degrees of gallbladder hypoplasia， biliary duct dilatation， and hepatic fibrosis. ARPKD often occurs in the perinatal period or during infancy， and most patients die during the perinatal period or infancy. Therefore， it is of great importance to conduct ARPKD carrier screening and prevent the birth of children with ARPKD. However， there is still a lack of sufficient genetic counseling capacity for ARPKD in China. Based on ARPKD-related studies， guidelines， and consensus statements in China and globally， this consensus systematically summarizes the clinical， medical， and genetic knowledge of ARPKD and elaborates on screening methods， target populations， screening processes， and pre- and post-screening counseling to address the current issues in ARPKD carrier screening， in order to standardize the application of ARPKD carrier screening and better facilitate clinical practice. ［Journal of International Neurology and Neurosurgery, 2024, 51(5): 36-42］