Nephronophthisis: A review of genotype-phenotype correlation

Abstract

Nephronophthisis is an autosomal recessive cystic kidney disease and one of the most common genetic disorders causing end-stage renal disease in children. Nephronophthisis is a genetically heterogenous disorder with more than 25 identified genes. In 10%-20% of cases, there are additional features of a ciliopathy syndrome, such as retinal defects, liver fibrosis, skeletal abnormalities, and brain developmental disorders. This review provides an update of the recent advances in the clinical features and related gene mutations of nephronophthisis, and novel approaches for therapy in nephronophthisis patients may be needed.

Keywords: cystic kidney disease; nephronophthisis; renal ciliopathy.

Figure 1

Subcellular localization of different nephrocystin module.

Figure 2

Approach to clinical diagnosis of nephronophthisis (NPHP).