Nephronophthisis comprises a group of autosomal recessive cystic kidney diseases, which constitute the most frequent genetic cause for end-stage renal failure in children and young adults.

Synopsis

 medullary cystic disease

• renal medullary cysts
• renal corticomedullary cysts
• renal interstitial fibrosis
• renal tubular atrophy
• relatively spared glomeruli

 nephronophthisis-associated hepatic disease

• nephronophthisis-associated congenital hepatic fibrosis
• hepatic fibrosis

Variants

 autosomal recessive form
 autosomal dominant form (MIM.174000)

Etiology

Four gene loci for NPHP have been mapped:

Associations

 retinitis pigmentosa (Senior-Loken syndrome) (SLS) (NPHP4): mutations in the nephroretinin gene in 1p36 (#12205563#)
 hepatic fibrosis
 skeletal malformations
 central nervous system malformations

Synopsis

 cysts of 1-15 mm in diameter, located primarily at the corticomedullary junction (70%)
 chronic sclerosing tubulo-interstitial nephropathy

See also

 Joubert syndrome (germline NPHP1 mutations)

References

 Saunier S, Salomon R, Antignac C. Nephronophthisis. Curr Opin Genet Dev. 2005 Jun;15(3):324-31. PMID: #15917209#