Nephronophthisis (NPHP) is the term for a group of early-onset tubulointerstitial nephropathies characterized by a reduction in the kidney’s ability to concentrate urine, tubulointerstitial nephritis, cystic kidney disease, and progression to last-stage kidney failure before the third decade of life. Eighty percent of individuals affected by nephronophthisis lacks any extrarenal manifestations, although in 20% of the cases nephronophthisis is associated with syndromes
such as Bardet-Biedl, Joubert, Senior-Løken, Meckel-Gruber, and COACH, among others. Most known genetic forms are autosomal recessive, with biallelic alterations in genes associated with the centrosome and biliary function. Three
forms of nephronophthisis are recognized childhood, juvenile, and adolescent/adult forms.
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