[LCAT deficiency: a nephrological diagnosis].

A genetic mendelian autosomal recessive condition of deficiency of lecithin- cholesterol acyltransferase (LCAT) can produce two different diseases: one highly interesting nephrologic picture of complete enzymatic deficiency (lecithin:cholesterol acyltransferase deficiency; OMIM ID #245900; FLD), characterized by the association of dyslipidemia, corneal opacities, anemia and progressive nephropathy; and a partial form (fish eye disease; OMIM ID #136120; FED) with dyslipidemia and progressive corneal opacities only. The diagnosis of FLD falls first of all under the competence of nephrologists, because end-stage renal disease appears to be its most severe outcome. The diagnostic suspicion is based on clinical signs (corneal opacities, more severe anemia than expected for the degree of chronic renal failure, progressive proteinuric nephropathy) combined with histology obtained by kidney biopsy (glomerulopathy evolving toward sclerosis with distinctive lipid deposition).

Retinal oscillatory potential abnormalities in patients with chronic renal failure, before and after dialytic treatment.

Nineteen patients with chronic renal failure were studied, oscillatory potentials (OPs) being recorded shortly before and after dialytic treatment. Mean values of either onset latency (O1 latency) and duration of the complex (O1-N4 inter-peak latency) were found to be significantly longer in patients than in controls (p < 0.001).