What is the genetic basis of Nephronophthisis?
Nephronophthisis is inherited in an autosomal recessive fashion.
To date, 20 genes for Nephronophthisis have been identified, each coding for a nephrocystin expressed in the primary cilia of kidney epithelial cells and other cell types.
Ciliary dyfunction leads to abnormalities in their flow, osmolal, or chemosensor functions.
NPHP1, the most common gene for juvenile Nephronophthisis, is found in 20% to 40% of cases.
