Senior-Loken and other Renal-Retinal Syndromes: A Case Report and Review
| Author | Mohit K Turagam | en |
| Author | Poonam Velagapudi | en |
| Author | Jean L Holley | en |
| Issued Date | 2009-12-31 | en |
| Abstract | Nephronophthisis (NPHP) is an autosomal recessive kidney disorder characterized by chronic tubulointerstitial nephritis that progresses eventually to end-stage kidney disease (ESKD). NPHP is often a part of a multisystem disorder such as Senior-Loken syndrome, Joubert syndrome, Senior-Boichis syndrome, Saldino-Mainzer syndrome, COACH syndrome, Arima syndrome, Alstrom syndrome, RHYNS syndrome and Jeune's dystrophy with several associated extra renal manifestations. Positional cloning of nine genes (NPHP1-9) as mutated in NPHP and characterization of their coded proteins have contributed to the concept of "ciliopathies". The ciliary theory 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 that are involved, thereby opening new potential therapeutic approaches. | en |
| DOI | https://doi.org/ | en |
| Keyword | Nephronophthisis | en |
| Keyword | Ciliopathy | en |
| Keyword | Chronic Tubulointerstitial Nephritis | en |
| Keyword | Joubert Syndrome | en |
| Keyword | End-Stage Kidney Disease | en |
| Publisher | Brieflands | en |
| Title | Senior-Loken and other Renal-Retinal Syndromes: A Case Report and Review | en |
| Type | Case Report | en |
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