Senior-Loken and other Renal-Retinal Syndromes: A Case Report and Review
Journal Title: Nephro-Urology Monthly - Year 2009, Vol 1, Issue 2
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.
Authors and Affiliations
Mohit K Turagam, Poonam Velagapudi, Jean L Holley
Keywords
Related Articles
- EP ID EP85681
- DOI -
- Views 137
- Downloads 0
Vesical Amyloidosis Masquerading as Bladder Cancer with Hematuria
To describe and report a case of an episodic painless hematuria, in a middle aged gentleman whose initial radiological work up and cystoscopic findings suggested localized carcinoma of the urinary bladder. Nuclear matrix...
End Stage Renal Disease in El-Minia Governorate, Egypt: Data of the Year 2007
Background: Previously we conducted three cross sectional studies of epidemiology of end stage renal disease (ESRD) in El Minia Governorate.. Objectives: The aim of study was to ascertain prevalence, etiology and risk...
Senior-Loken and other Renal-Retinal Syndromes: A Case Report and Review
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...
Reversed Clinical and Morphologic Characteristicsof Idiopathic Childhood Nephrotic Syndrome
Background and Aims: Minimal change disease (MCD) is uncommon in Nigeria; in the sixties and eighties quartan malaria nephropathy accounted for more than 80.0% of all cases of childhood nephrotic syndrome (CNS). There is...
Plasma NT-pro BNP Concentrations in Patients with Hypertensive Chronic Kidney Disease
Background and Aims: Plasma N-amino terminal fragment of the prohormone B-type natriuretic peptide(NT-proBNP) is produced and released from cardiac ventricles; it is elevated in patient with heart failure,hypertension an...