What is nephronophthisis?
Nephronophthisis (NPHP) is an inherited condition which affects the kidneys. It is the most common cause of kidney failure in children and young adults.
In nephronophthisis scar tissue and cysts form, replacing healthy tissue in the kidney, causing loss of kidney function.
Causes of nephronophthisis
Several genes have been linked to nephronophthisis. The most commonly involved is the NPHP1 gene. Nephronophthisis is an autosomal recessive condition, meaning individuals with the condition have two copies of the faulty gene. Proteins made from the instructions coded for by these genes are found in cilia.
Cilia are small structures found on the surface of cells that act as ‘antennae’, helping the cell to respond to changes. Changes to the cilia can cause the cells to respond in the wrong way to their environment, and that can result in the formation of cysts.
Nephronophthisis symptoms
Symptoms of nephronophthisis often begin in childhood or young adulthood and can include:
- Excessive thirst
- Excessive volume of urine
- Reduced growth
- Mild proteinuria
- High blood pressure
- Hyponatraemia (low sodium levels)
- Metabolic acidosis (blood is more acidic than it should be)
Nephronophthisis diagnosis
Usually, nephronophthisis is diagnosed using a kidney biopsy and/or genetic testing to look for changes to genes.
In some cases, other organs may also be affected, such as the liver, eyes and/or brain.
Nephronophthisis treatments
Currently there are no medications to slow or reverse the effects of nephronophthisis. Therefore, treatment focuses on managing the symptoms, such as high blood pressure and anaemia.
Children with reduced growth may also be given nutritional supplements and growth hormone.
Treatment options for individuals who reach kidney failure include dialysis or a kidney transplant.
References
Fung, E. Nephronophthisis and Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) [online]. MSD Manual, Merck & Co, Inc., Rahway, NJ, USA; Mar 2025 [Accessed 8 October 25]. Available from: Nephronophthisis and Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) - Genitourinary Disorders - MSD Manual Professional Edition
Sudhindar, P. D. et al. Urinary renal epithelial cells can be used for NPHP1 phenotyping and a personalized therapeutic strategy. J Cell Sci. 2025; 138(20)
Fung, E. Nephronophthisis and Autosomal Dominant Tubulointerstitial Kidney Disease [online]. MSD Manual, Merck & Co, Inc., Rahway, NJ, USA; Mar 2025 [Accessed 8 October 25]. Available from: Nephronophthisis and Autosomal Dominant Tubulointerstitial Kidney Disease - Kidney and Urinary Tract Disorders - MSD Manual Consumer Version
Hildebrandt, F., Attanasio M. and Otto, E. Nephronophthisis: Disease Mechanisms of a Ciliopathy. J Am Soc Nephrol. 2010; 20(1): 23-25
Gimpel, C. et al. Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement. Radiology. 2019; 290: 769-782
Reviewed March 2026
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