Birth of two healthy girls following preimplantation genetic diagnosis and gestational surrogacy in a rapidly progressive autosomal dominant polycystic kidney disease case using tolvaptan

摘要

Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenetic hereditary kidney disease, mainly resulting from mutations in PKD1 and PKD2 [1]. The growth of renal cysts ends in renal failure in the majority of affected individuals, as 50% lead to end-stage renal disease (ESRD). The early clinical manifestations of ADPKD are seen at <30 years of age, and kidney growth rates before adulthood significantly define patients with severe disease [1]. Only tolvaptan has been approved as a specific treatment to slow progression for patients with rapidly progressive disease, highlighting the need to identify such cases [2]. Women with ADPKD, besides the 50% risk of transmission to their offspring, have an increased risk of maternal and fetal complications in pregnancy [3]. Preimplantation genetic diagnosis (PGD) provides an alternative for avoiding pregnancy and the birth of children with ADPKD in at-risk couples. Gestational surrogacy (GS) represents another alternative in affected women who wish to have a biological child and avoid severe obstetric complications.