Senior-Loken and other Renal-Retinal Syndromes: A CaseReport and Review

Nephronophthisis (NPHP) is an autosomal recessive kidney disorder characterized by chronic tubulointerstitialnephritis that progresses eventually to end-stage kidney disease (ESKD). NPHP is often a part of a multisystemdisorder such as Senior-Loken syndrome, Joubert syndrome, Senior-Boichis syndrome, Saldino-Mainzersyndrome, COACH syndrome, Arima syndrome, Alstrom syndrome, RHYNS syndrome and Jeune’s dystrophywith several associated extra renal manifestations. Positional cloning of nine genes (NPHP1-9) as mutated inNPHP and characterization of their coded proteins have contributed to the concept of “ciliopathies”. The ciliarytheory explains the multiple organ involvement in NPHP that may manifest as retinitis pigmentosa, liver fibrosis,ataxia, and mental retardation. The treatment of choice for ESKD due to NPHP is kidney transplantation.Positional cloning of additional genes of NPHP will elucidate further signaling mechanisms and pathways thatare involved, thereby opening new potential therapeutic approaches.