Lipidosi glomerulari

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Pubblicato il 10 novembre 2016

Glomerular lipidosis

Lipidosi glomerulari

Glomerular lipidosis

Sandro Feriozzi

UOC Nefrologia e Dialisi, Ospedale Belcolle,Viterbo

Corrispondenza a: Sandro Feriozzi; UOC Nefrologia e Dialisi, Ospedale Belcolle,Strada Sammartinese snc, 01100 Viterbo; Tel: +39 0761338602; Fax: +39 0761338600; E-mail: sandro.feriozzi@asl.vt.it

Abstract

Le lipidosi sono patologie dovute ad abnorme accumulo di lipidi e/o prodotti del loro metabolismo in quantità abnormi e/o coinvolgenti solo particolari strutture parenchimali. L’accumulo dei lipidi e/o di loro metaboliti è dovuto ad un errore enzimatico congenito nelle forme primitive e ad alterazioni complesse del metabolismo lipidico nelle forme secondarie. Istologicamente tuttavia le lesioni sono molto simili dovute alla deposizione lipidica ed è necessario lo studio immunoistochimico, la conoscenza del quadro clinico ed recentemente anche dei test genetici per porre una diagnosi corretta. La deposizione dei lipidi determina le alterazioni strutturali dei parenchimi ed in particolare dei componenti il glomerulo con conseguente alterazione della funzione renale e la comparsa di proteinuria e/o ematuria.

Il manoscritto raccoglie i quadri clinici ed istologici che si osservano in queste patologie. È descritto il coinvolgimento renale in corso di malattia di Anderson Fabry, di iperlipoproteinemia, di carenza dell’enzima lecitina colesterol acyltransferasi, di malattia di Gaucher ed infine qudri di lipidosi secondaria come nella sindrome nefrosica, nella malattia di Argille e nel danno renale da tossici o da ischemia.

Recentemente la comparsa di terapia enzimatica sostitutiva in alcune lipidosi, come neel malattie di Anderson Fabry e di Gaucher, sta modificando completamente i quadri clinici e la prognosi. Pertanto è necessario conoscEre queste patologie non solo per porre una diagnosi ma anche per poter instituire dove possibile una terapia efficace.

Abstract

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.

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pubblicata il 10 novembre 2016
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Sandro Feriozzi

UOC Nefrologia e Dialisi, Ospedale Belcolle,Viterbo

Corrispondenza a: Sandro Feriozzi; UOC Nefrologia e Dialisi, Ospedale Belcolle,Strada Sammartinese snc, 01100 Viterbo; Tel: +39 0761338602; Fax: +39 0761338600; E-mail: sandro.feriozzi@asl.vt.it

Parole chiave: danno glomerulare, deposizione tessutale, Lipidosi, terapia enzimatica sostitutiva

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

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