AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE ABOUT A NEW CASE REPORT

We present the case of a 25-year-old woman gravida 2, para 01 who presented for childbirth at 40 weeks of gestation. Which Fetal Anatomy Ultrasound showed enlarged, hyperechoic fetal kidneys and a normal amniotic fluid index. Karyotyping was done on umbilical cord blood to look for mutations in the PKHD1 gene for the presumptive diagnosis of autosomal recessive polycystic kidney disease (ARPKD). In our patient, a previously reported pathogenic missense mutation in the PKHD1 gene, c.10444C>T, was found to be maternally inherited. A second previously unknown de novo mutation, c.5909-2delA, was discovered. This mutation is likely pathogenic because it affects the canonical splice site. Our case emphasizes PKHD1 allelic heterogeneity and the importance of prenatal genetic testing in a setting where many other genetic etiologies can phenocopy ARPKD.