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. Juvenile nephronophthisis is characterized by symptoms that first manifest when the affected individual is between four to six years old and progresses to end-stage renal disease when they are around thirteen years old. Adolescent nephronophthisis typically progresses to ESRD by the time the patient reaches nineteen years old.