Nephronophtisis

Nephronophthisis is a genetic disorder affecting the kidneys. It is characterized by inflammation and scarring that impairs the kidneys' ability to filter waste from the blood. Nephronophthisis is a form of cystic kidney disease and is classified as a ciliopathy due to its association with defective cilia function in the kidney cells.

Causes[edit | edit source]

Nephronophthisis is primarily caused by mutations in genes that are essential for the normal functioning of the renal cilia, microscopic hair-like structures that play a crucial role in cell signaling and fluid movement within the kidney. More than 20 genes have been identified in association with nephronophthisis, with NPHP1, NPHP3, and NPHP4 being among the most common. The disease is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Symptoms[edit | edit source]

The symptoms of nephronophthisis often develop in childhood or adolescence, although in some cases, symptoms may not appear until early adulthood. Common symptoms include excessive thirst and urination, fatigue, and growth retardation. As the disease progresses, it can lead to renal failure, necessitating dialysis or a kidney transplant.

Diagnosis[edit | edit source]

Diagnosis of nephronophthisis typically involves a combination of clinical evaluation, family history, genetic testing, and imaging studies such as ultrasound. The presence of cysts in specific locations of the kidneys, along with reduced kidney size, can suggest nephronophthisis. Genetic testing can confirm the diagnosis by identifying mutations in the genes associated with the disease.

Treatment[edit | edit source]

There is no cure for nephronophthisis, and treatment focuses on managing symptoms and slowing the progression of kidney damage. This may include medication to control blood pressure, treat urinary tract infections, and correct electrolyte imbalances. In advanced cases, dialysis or kidney transplantation may be necessary.

Prognosis[edit | edit source]

The prognosis for individuals with nephronophthisis varies depending on the age of onset and the progression rate of kidney damage. Early detection and management of symptoms can improve the quality of life and delay the onset of kidney failure.