A novel truncating PAX2 mutation in a boy with renal coloboma syndrome with focal segmental glomerulosclerosis causing rapid progression to end-stage kidney disease

We report a case of RCS with a novelPAX2 mutation that was pathologically diagnosed as FSGS and rapidly progressed to end-stage kidney failure (ESKD) with a review of past literature. A 6-year-old boy, who had bilateral coloboma and loss of vision in the left eye, was noted non-nephrotic proteinuria and renal dysfunction via school urine screening. Abdominal ultrasound showed no renal and urinary tract malformations and kidney biopsy showed FSGS. Genetic analysis revealed a novel insertion-deletion mutation inPAX2 (NM003987.4: c.70_72delinsA; p.Gly24Argfs*29). His kidney function deteriorated gradually during the following 2  years and kidney transplantation was performed at 9 years of age. In previous reports describingPAX2 mutations with FSGS, affected individuals with missensePAX2 mutations developed ESKD in adulthood, whereas one case with truncatingPAX2 mutations developed ESKD in childhood similar to the current case. Our case highlighted the association of truncatingPAX2 mutations with the risk of rapid progression to ESKD. Thus,PAX2 mutations should be included in genetic screening for such cases even in the absence of renal and urinary tract malformations.
Source: CEN Case Reports - Category: Urology & Nephrology Source Type: research