Late-onset renal failure in Senior-Loken syndrome

We report on four patients, from three different families, with Senior-Loken syndrome (SLS). They were unusual in that they reached end-stage renal failure (ESRF) only during the fifth or sixth decade. SLS is an autosomal-recessive disorder defined by the association of nephronophthisis and retinal...

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Bibliographic Details
Published in:	American journal of kidney diseases Vol. 36; no. 6; pp. 1271 - 1275
Main Authors:	Georges, Benoît, Cosyns, Jean-Pierre, Dahan, Karin, Snyers, Bernadette, Carlier, Bernard, Loute, Guy, Pirson, Yves
Format:	Journal Article
Language:	English
Published:	Orlando, FL Elsevier Inc 01-12-2000 Elsevier
Subjects:	Adult Age of Onset Biological and medical sciences Comorbidity Female Humans Kidney Failure, Chronic - diagnosis Kidney Failure, Chronic - etiology Male Medical sciences Middle Aged Nephrology. Urinary tract diseases nephronophthisis Nephropathies. Renovascular diseases. Renal failure Polycystic Kidney Diseases - diagnosis Polycystic Kidney Diseases - epidemiology Polycystic Kidney Diseases - genetics Retinal Degeneration - diagnosis Retinal Degeneration - epidemiology Retinal Degeneration - genetics retinal dystrophy Senior-Loken syndrome Syndrome Tubulopathies nephronophthisis retinal dystrophy Senior-Loken syndrome Kidney disease Case study Human Chronic Late Urinary system disease Onset time Tubulopathy Renal failure Genetic disease Senior syndrome
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Summary:	We report on four patients, from three different families, with Senior-Loken syndrome (SLS). They were unusual in that they reached end-stage renal failure (ESRF) only during the fifth or sixth decade. SLS is an autosomal-recessive disorder defined by the association of nephronophthisis and retinal dystrophy. Affected individuals invariably progress to ESRF, usually before the age of 20 years. The diagnosis was based on typical clinical presentation and characteristic renal histology, that is, a picture of chronic interstitial nephritis with pronounced thickening and multilayering of tubular basement membranes. Deterioration of renal function was slow, leading to ESRF between the ages of 42 and 56 years. Retinal dystrophy, already symptomatic during childhood in two patients, led to severe visual impairment in all. In contrast with four cases of SLS recently reported in very young patients, the NPH1 gene (the main gene responsible for nephronophthisis) was not deleted in our two tested patients. We conclude that SLS should be considered in adults who suffer from both chronic interstitial nephropathy and retinal degeneration. Whether the SLS is a variant of nephronophthisis and whether early- and late-onset renal failure in SLS is accounted for by genetic or allelic heterogeneity remain to be determined.
ISSN:	0272-6386 1523-6838
DOI:	10.1053/ajkd.2000.19845