| [ Summary ] |
Nephronophthisis (NP) is a congenital tubulointerstitial nephropathy. The patients with NP manifest polydipsia, polyuria, enuresis, anemia and failure to thrive during child hood. NP is clinically differentiated into three categories: juvenile nephronophthisis (NPH1), infantile nephronophthisis (NPH2), and adolescent nephronophthisis (NPH3). The characteristic features of the advanced cases with the disease are severe tubular atrophy with interstitial fibrosis and inflammatory cell infiltration, tubular basement membrane thickening, periglomerular fibrosis, and patchy glomerular obsolescence. The major feature is renal cysts at corticomedullary junction. The gene for NPH1 was recently identified. Its gene product, nephrocystin, is a novel protein, which contains a src-homology 3 domain, suggesting that pathogenesis of NPH might be related to signaling processes at focal adhesions and/or adhesion junctions. |