Malattie Metaboliche e Rene 2016 - Articoli originali

Glomerular lipidosis


Lipidoses occur for an abnormal storage parenchymal deposition of lipids and products of their metabolism in large amounts or sometimes, involving only some particular tissue structures. The lipid storage is usually due to an inborn error causing an enzyme absence /deficiency in the primary lipidoses and to a complex metabolism alterations in the secondary forms. However, histologically all lipid depositions look very similar, and immunohistochemical investigation, clinical pictures knowledge and genetic tests need to make a correct diagnosis. Lipid deposition causes parenchymal structural changes especially of glomeruli resulting in renal function impairment and proteinuria and haematuria appearance.

This manuscript gathers clinical and histological features present in these storage pathologies. Renal involvement is described in Anderson-Fabry disease, in hyperlipoproteinemias, in lecithin-cholesterol acyltransferase deficiency, in Gaucher disease and finally in secondary lipidoses features such as nephrotic syndrome, Alagille disease, and toxic or ischemic renal damage.

Recently the replacement enzymatic therapy availability is substantially modifying the clinical picture and the outcome in some lipidoses such as Anderson-Fabry and Gaucher diseases. Therefore, it is import to be aware of these disorders, not only for making a correct diagnosis but also for starting, when it is possible, an effective therapy.

Key words: enzymatic replacement therapy, glomerular damage, Lipidoses, tissue deposition

Full text of the article is available in Italian.