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LYSOSOMAL ACID LIPASE DEFICIENCY IN CHILDREN: OUR EXPERIENCE AND A NOVEL POSSIBILITY OF ENZYME REPLACEMENT THERAPY

Danijela Petković Ramadža
Mario Ćuk
Karin Zibar
Marina Barić
Vladimir Sarnavka
Karmen Bilić
Ksenija Fumić
Jurica Vuković
Silvija Pušeljić
Marijana Ćorić
Ranka Štern Padovan
Marko Kralik
Ivo Barić

Puni tekst: hrvatski, pdf (803 KB) str. 0-0 preuzimanja: 107* citiraj
APA 6th Edition
Petković Ramadža, D., Ćuk, M., Zibar, K., Barić, M., Sarnavka, V., Bilić, K., ... Barić, I. (2015). MANJAK LIZOSOMSKE KISELE LIPAZE U DJECE: VLASTITA ISKUSTVA I NOVA MOGUĆNOST ENZIMSKOGA NADOMJESNOG LIJEČENJA. Liječnički vjesnik, 137 (3-4), 0-0. Preuzeto s https://hrcak.srce.hr/172686
MLA 8th Edition
Petković Ramadža, Danijela, et al. "MANJAK LIZOSOMSKE KISELE LIPAZE U DJECE: VLASTITA ISKUSTVA I NOVA MOGUĆNOST ENZIMSKOGA NADOMJESNOG LIJEČENJA." Liječnički vjesnik, vol. 137, br. 3-4, 2015, str. 0-0. https://hrcak.srce.hr/172686. Citirano 18.10.2019.
Chicago 17th Edition
Petković Ramadža, Danijela, Mario Ćuk, Karin Zibar, Marina Barić, Vladimir Sarnavka, Karmen Bilić, Ksenija Fumić, et al. "MANJAK LIZOSOMSKE KISELE LIPAZE U DJECE: VLASTITA ISKUSTVA I NOVA MOGUĆNOST ENZIMSKOGA NADOMJESNOG LIJEČENJA." Liječnički vjesnik 137, br. 3-4 (2015): 0-0. https://hrcak.srce.hr/172686
Harvard
Petković Ramadža, D., et al. (2015). 'MANJAK LIZOSOMSKE KISELE LIPAZE U DJECE: VLASTITA ISKUSTVA I NOVA MOGUĆNOST ENZIMSKOGA NADOMJESNOG LIJEČENJA', Liječnički vjesnik, 137(3-4), str. 0-0. Preuzeto s: https://hrcak.srce.hr/172686 (Datum pristupa: 18.10.2019.)
Vancouver
Petković Ramadža D, Ćuk M, Zibar K, Barić M, Sarnavka V, Bilić K i sur. MANJAK LIZOSOMSKE KISELE LIPAZE U DJECE: VLASTITA ISKUSTVA I NOVA MOGUĆNOST ENZIMSKOGA NADOMJESNOG LIJEČENJA. Liječnički vjesnik [Internet]. 2015 [pristupljeno 18.10.2019.];137(3-4):0-0. Dostupno na: https://hrcak.srce.hr/172686
IEEE
D. Petković Ramadža, et al., "MANJAK LIZOSOMSKE KISELE LIPAZE U DJECE: VLASTITA ISKUSTVA I NOVA MOGUĆNOST ENZIMSKOGA NADOMJESNOG LIJEČENJA", Liječnički vjesnik, vol.137, br. 3-4, str. 0-0, 2015. [Online]. Dostupno na: https://hrcak.srce.hr/172686. [Citirano: 18.10.2019.]

Sažetak
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.

Ključne riječi
Wolman disease – genetics, diagnosis, metabolism, drug therapy; Cholesterol ester storage disease – genetics, diagnosis, metabolism, drug therapy; Sterol esterase – genetics, deficiency, therapeutic use; Cholesterol esters – metabolism; Triglycerides – metabolism; Lysosomes – enzymology; Recombinant proteins – therapeutic use; Enzyme replacement therapy

Hrčak ID: 172686

URI
https://hrcak.srce.hr/172686

[hrvatski]

Posjeta: 270 *