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Late-onset renal failure in Senior-Loken syndrome
B Georges1, J P Cosyns, K Dahan
1Université Catholique de Louvain Medical School, Department of Nephrology, Pathology, Genetics, and Ophthalmology, Cliniques Universitaires St-Luc, Brussels, Belgium.
Summary
Senior-Loken syndrome (SLS) typically causes end-stage renal failure (ESRF) before age 20. This study identifies late-onset SLS in adults, presenting with chronic kidney disease and retinal degeneration.
Area of Science:
- Nephrology
- Ophthalmology
- Genetics
Background:
- Senior-Loken syndrome (SLS) is an autosomal-recessive disorder characterized by nephronophthisis and retinal dystrophy.
- Typically, affected individuals progress to end-stage renal failure (ESRF) before the age of 20 years.
Observation:
- This report details four patients from three families with a variant of SLS presenting with unusually late-onset ESRF, occurring between ages 42 and 56.
- Patients exhibited chronic interstitial nephritis with thickened tubular basement membranes and progressive retinal dystrophy, leading to severe visual impairment.
Findings:
- Unlike previously reported cases, the NPH1 gene deletion, commonly associated with nephronophthisis, was not found in the two tested patients.
- The slow deterioration of renal function and late onset of ESRF distinguish these cases from typical SLS presentations.
Implications:
- SLS should be considered in the differential diagnosis for adults presenting with unexplained chronic interstitial nephropathy and retinal degeneration.
- Further research is needed to determine if this late-onset form represents a distinct variant of SLS and to explore the genetic or allelic heterogeneity contributing to the varied renal failure onset.