We have investigated PAX2 expression and its colocalization with cytokeratin and/or vimentin in 17 biopsies of juvenile nephronophthisis (NPH), an autosomal-recessive renal disease characterized by diffuse renal fibrosis and occasional cysts.
Compared with the defects seen in mice lacking Pax-2 or bone morphogenic protein-7, the formation of cysts in tubules is morphologically a very mild defect.