Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, constitutes the most frequent genetic cause for end-stage renal disease (ESRD) in children and young adults. NPHP is a progressive hereditary kidney disease marked by anemia, polyuria, renal loss of sodium, progressing to chronic renal failure, tubular atrophy, interstitial fibrosis, glomerular sclerosis, and medullary cysts. The most prominent histologic feature of NPHP consists of renal fibrosis, which in chronic renal failure, regardless of origin, represents the pathogenic event correlated most strongly to loss of renal function. Therefore, NPHP has been considered a model disease for the development of renal fibrosis.
Researchers at the University of Michigan have developed assays for the detection of NPHP5, and assays for detecting NPHP5 polymorphisms and mutations associated with disease states. The present invention further provides methods of identifying variant NPHP5 nucleic acid and amino acid sequences associated with disease states (e.g., Senior-Loken syndrome), as well as methods of screening for compounds that modulate NPHP5 activity or signaling.
Applications and Advantages
- Diagnostics for Nephronophthisis
- Early detection