In the absence of a positive family history in either of the parents, these clinical pictures could be misdiagnosed at first for an alternative congenital cystic nephropathy such as Autosomal Recessive Polycystic Kidney Disease (ARPKD), presenting with enlarged echogenic kidneys, hypertension and varying degrees of renal dysfunction due to PKHD1 or DZIP1L biallelic mutations [35], or as HNF1B-related disease, where bilateral hyperechogenic kidneys can be detected on prenatal ultrasound [36]. Here, DZIP1L is linked to hypertensive disorder.