Autosomal Recessive Polycystic Kidney Disease with Congenital Talipes Equinovarus - A Rare Autopsy Case Report

Abstract

ARPKD is a rare, infantile form of PCKD. It's a Ciliopathic disorder with multi-organ involvement. The pathognomonic features are predominately seen in the kidneys and liver. We herein report a case of ARPKD that presented in an antenatal mother whose prenatal screening ultrasonogram revealed enlarged, echogenic kidney with severe oligohydramnios. ARPKD was suspected and due to its poor compatibility with life, patient underwent MTP. Fetal autopsy confirmed ARPKD with potter's sequence – oligohydramnios and CTEV. This extremely rare ARPKD associated with CTEV was seen in only one other published case in India.

Keywords

• ARPKD
• CTEV
• Potter's sequence
• Ciliopathy