Nephronophthisis and its Impact on Human Body: A Review

Abstract

Nephronophthisis (NPHP) is an autosomal cystic kidney disease which is the most common hereditary disease. It is caused by mutations in 11 genes, known as nephrocystins (NPHP1-11, NPHP1L). With the identification of an increasing number of these genes, our knowledge of nephronophthisis changes and improves our comprehension of the pathomechanisms of NPHP. Ciliary expression of nephrocystins with other cystoproteins, such as polycystins 1 and 2, and fibrocystins have been documented in recent studies. These findings have directed our emphasis towards a pathomechanism with ciliary (ciliopathy) and planar cell polarity abnormalities (PCP). Furthermore, novel nephrocystin genes have been found to cause considerably larger than predicted illness spectrum of NPHP. In the same NPHP gene, various mutations might cause varied severity of the illness. In this study, we discuss about NPHP pathomechanisms and highlight the clinical heterogeneity of the illness. With the potential of oligogenicity in NPHP, the clinical range has grown even more complicated.