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.
Numerous indications are commonly present in all forms of nephronophthisis. Learn about these key warning signs now.
An individual who experiences polydipsia may be affected by nephronophthisis. Polydipsia is described in an individual who is unable to satisfy their thirst, no matter how much fluids they drink. Patients affected by polydipsia drink over six liters of fluids every day. The exact mechanism of how nephronophthisis causes excessive thirst is not clear. However, it involves the cyst presence, inflammation, scar tissue, and ciliary abnormalities, causing problems in the normal function of the kidneys to concentrate an individual’s urine. When the body needs more water, the kidneys concentrate the urine and do not pull water from the blood. When the body has too much water, the kidneys do the opposite and pull the fluid out of the blood for excretion. Nephronophthisis patients have kidneys that don’t perform this function very well. The kidneys do not concentrate the urine even when the individual needs to retain more fluid in the body. This malfunction causes the fluid to continue being excreted as diluted urine, and the brain to signal the need for more fluids through the mechanism of excessive thirst. The affected individual keeps drinking fluids in an attempt to satisfy the sensation of thirst being produced by the brain.
Keep reading to learn more about the symptoms of nephronophthisis now.