Autosomal recessive polycystic kidney disease: Mapping to chromosomal region of 6p21 - CEN in a turkish child

Abstract

Autosomal recessive polycystic kidney disease (ARPCD) is a congenital kidney disease with severe prognosis. We present a male infant who was diagnosed prenatally by ultrasonography. He died at two months of age in a septic stage. The genetic defect for ARPCD has been mapped to chromosomal region of 6p21-cen. This represents the first study from this region of the world. The linkage studies up to this date fail to show genetic heterogeneity.