Nephronophthisis
In a nutshell
Nephronophthisis (NPHP) is the most common genetic cause of chronic kidney disease within the first three decades of life. It is inherited in an autosomal recessive manner, with at least 17 genes currently implicated. Presentation may occur during infancy but more typically in late childhood, with progressive renal failure during early puberty. Symptoms can include passing large volumes of urine, excessive drinking, wetting and anaemia, and there may be extrarenal features such as liver fibrosis or cardiac malformations.
Nephronophthisis (NPHP) is the most common genetic cause of chronic kidney disease within the first three decades of life.
Presentation may occur during infancy but more typically in late childhood with progressive renal failure manifesting during early puberty.
Primary features of Nephronophthisis
Ultrasonographic features demonstrate normal size kidneys with loss of cortico-medullary differentiation and increased echogenicity.
Histologically, NPHP kidneys are characterized by the presence of cortico-medullary cysts, tubular basement membrane disruption and tubulointerstitial nephropathy.
Inherited in an autosomal recessive mode, NPHP is genetically heterogeneous with at least 17 genes currently implicated which account for only about 30% of cases. NPHP is a ciliopathy disorder because similarly to the proteins involved in polycystic kidney disease, the nephrocystins (NPHP associated proteins) have all been localized to primary cilia, basal bodies and centrosomes. Many different ciliopathy patients show symptoms of NPHP.
Impact and symptoms of NPHP can include
- Polyuria (passing large volumes of urine frequently)
- Polydipsia (excessive drinking)
- Secondary enuresis (wetting)
- Anaemia
- NPHP may also have extrarenal manifestations, such as liver fibrosis, situs inversus, or cardiac malformations.
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Last reviewed: August 2026