Manjak lizosomske kisele lipaze u djece: vlastita iskustva i nova mogućnost enzimskoga nadomjesnog liječenja

Scientific paper - Original scientific paper

• Title (english): Lysosomal acid lipase deficiency in children: our experience and a novel possibility of enzyme replacement therapy
• Author: Danijela Petković Ramadža
• Author: Mario Ćuk
• Author: Karin Zibar
• Author: Marina Barić
• Author: Vladimir Sarnavka
• Author: Karmen Bilić
• Author: Ksenija Fumić
• Author: Jurica Vuković
• Author: Silvija Pušeljić
• Author: Marijana Ćorić
• Author: Ranka Štern Padovan
• Author: Marko Kralik
• Author: Ivo Barić
• Author's institution: University of Zagreb; School of Medicine
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences

Abstract (english)

Lysosomal acid lipase deficiency is an autosomal recessive disorder with two distinct clinical phenotypes. Wolman disease is rapidly progressive with onset in early infancy. Complete enzyme deficiency results in massive accumulation of cholesterol esters and triglycerides in intestines, liver, spleen and other monocyte-macrophage system cells causing malabsorption, hepatosplenomegaly, liver failure and death in early infancy. Cholesterol ester storage disease may be diagnosed in childhood or later in life. It is characterized by chronic course and variable progression. Main features are variously expressed hepatopathy, including cirrhosis and liver failure, hypercholesterolemia and premature atherosclerosis. Characteristic is pathohistological finding of microvesicular steatosis and fibrosis and patognomonic are typical cholesterol ester crystals. Diagnosis is confirmed by enzyme assay and/or gene analysis. Until recently treatment was symptomatic. Ongoing clinical trials of enzyme replacement therapy have shown very promising results. We are presenting an infant with Wolman disease and two children with cholesterol ester storage disease with the aim to raise awareness about this disease and to start optimal care early.

Abstract (croatian)

Manjak lizosomske kisele lipaze autosomno je recesivno nasljedna bolest s dva klinička fenotipa. Wolmanova bolest počinje u ranoj dojenačkoj dobi i brzo je progresivna. Zbog masivnog nakupljanja kolesterolskih estera i triglicerida u crijevima, jetri, slezeni i drugim stanicama monocitno-makrofagnog reda dolazi do malapsorpcije, hepatosplenomegalije, zatajenja jetre i smrti u prvoj godini života. Bolest nakupljanja kolesterolskih estera može se očitovati od rane dječje do kasne odrasle dobi, varijabilna je tijeka i progresije. Glavna su obilježja različito izražena jetrena bolest, uključujući cirozu i zatajenje jetre, hiperkolesterolemija i rana ateroskleroza. Karakterističan je patohistološki nalaz mikrovezikularne steatoze i fibroze, a patognomoničan je ultrastrukturni nalaz kristala kolesterolskih estera. Dijagnozu potvrđuju mjerenje enzimske aktivnosti i/ili analiza gena. Liječenje je donedavno bilo suportivno i simptomatsko. Klinička istraživanja enzimskoga nadomjesnog liječenja pokazuju vrlo ohrabrujuće rezultate. Prikazujemo dojenče s Wolmanovom bolešću i dvoje djece s bolešću nakupljanja kolesterolskih estera s ciljem skretanja pozornosti na bolesti zbog manjka lizosomske kisele lipaze i što ranijeg početka optimalne skrbi.

• Keywords (english): Child; Cholesterol Ester Storage Disease/complications; Cholesterol Ester Storage Disease/diagnosis; Cholesterol Ester Storage Disease/drug therapy; Enzyme Replacement Therapy; Humans; Infant; Wolman Disease/complications; Wolman Disease/diagnosis; Wolman Disease/drug therapy
• Language: croatian
• Publication type: Scientific paper - Original scientific paper
• Publication status: Published
• Peer review: Peer review
• Publication version: Published version
• Journal title: Liječnički vjesnik
• Numbering: vol. 137, no. 3-4, pp. 81-87
• p-ISSN: 0024-3477
• URN:NBN: urn:nbn:hr:105:164054
• Publication: 2015-03
• Document URL: http://lijecnicki-vjesnik.hlz.hr/lijecnicki-vjesnik/manjak-lizosomske-kisele-lipaze-u-djece-vlastita-iskustva-i-nova-mogucnost-enzimskoga-nadomjesnog-lijecenja/
• Type of resource: Text
• Access conditions: Open access
• Created on: 2024-03-28 09:29:35