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.

Keywords: autosomal recessive polycystic kidney disease, genetics

How to cite

1.
Beşbaş N, Özen S, Saatçi Ü, Çağlar M, Mucher G, Zerres K. Autosomal recessive polycystic kidney disease: mapping to chromosomal region of 6p21-cen in a Turkish child. Turk J Pediatr 1998; 40: 245-247. https://doi.org/10.24953/turkjpediatr.1998.3306