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.

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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.

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Senior-Loken and other Renal-Retinal Syndromes: A Case Report and Review

AUTHORS

Mohit K Turagam 1 , * , Poonam Velagapudi 2 , Jean L Holley 2

1 University of Illinois College of Medicine, [email protected], USA

2 the Department of Internal Medicine, USA

How to Cite: Turagam M, Velagapudi P, Holley J. Senior-Loken and other Renal-Retinal Syndromes: A Case Report and Review, Nephro-Urol Mon. Online ahead of Print ; 1(2):143-152.

ARTICLE INFORMATION

Nephro-Urology Monthly: 1 (2); 143-152
Article Type: Case Report
Received: May 2, 2009
Accepted: June 2, 2009
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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.

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