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.