Key Warning Signs Of Nephronophthisis

Nephronophthisis is a kidney disorder where an affected individual's kidney function becomes impaired due to inflammation and scarring. This disorder is caused by a mutation in the NPHP1 gene that causes abnormal development of a cell structure called cilia. Cilia is imperative to the function of many different tissues, including those in the brain, liver, and kidneys. Nephronophthisis patients develop corticomedullary fluid-filled cysts in the kidneys. Three different forms of nephronophthisis are characterized by the age of which end-stage renal disease (ESRD) occurs. Infantile nephronophthisis typically progresses to ESRD before the patient reaches two years old.