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.
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 11 genes currently implicated which account for only 30% of cases. Similar to the polycystic kidney disease genes, the nephrocystins have all been localized to primary cilia, basal bodies and centrosomes.
Symptoms can include
- Polyuria (passing large volumes of urine frequently)
- Polydipsia (excessive drinking)
- Secondary enuresis (wetting)
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