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Two novel variants in the lecithin: cholesterol acyltransferase gene resulted in classic LCAT deficiency
Atherosclerosis Plus, 49 (2022); 28-31. https://doi.org/10.1016/j.athplu.2022.05.005
Fištrek Prlić, Margareta; Ćorić, Marijana; Calabresi, Laura; Pavanello, Chiara; Mosca, Lorena; Cavallari, Ugo; Vuković Brinar, Ivana; Karanović, Sandra; Laganović, Mario; Jelaković, Bojan

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Fištrek Prlić, M., Ćorić, M., Calabresi, L., Pavanello, C., Mosca, L., Cavallari, U. ... Jelaković, B. (2022). Two novel variants in the lecithin: cholesterol acyltransferase gene resulted in classic LCAT deficiency. Atherosclerosis Plus, 49., 28-31. doi: 10.1016/j.athplu.2022.05.005

Fištrek Prlić, Margareta, et al. "Two novel variants in the lecithin: cholesterol acyltransferase gene resulted in classic LCAT deficiency." Atherosclerosis Plus, vol. 49, 2022, str. 28-31. https://doi.org/10.1016/j.athplu.2022.05.005

Fištrek Prlić, Margareta, Marijana Ćorić, Laura Calabresi, Chiara Pavanello, Lorena Mosca, Ugo Cavallari, Ivana Vuković Brinar, Sandra Karanović, Mario Laganović i Bojan Jelaković. "Two novel variants in the lecithin: cholesterol acyltransferase gene resulted in classic LCAT deficiency." Atherosclerosis Plus 49 (2022): 28-31. https://doi.org/10.1016/j.athplu.2022.05.005

Fištrek Prlić, M., et al. (2022) 'Two novel variants in the lecithin: cholesterol acyltransferase gene resulted in classic LCAT deficiency', Atherosclerosis Plus, 49, str. 28-31. doi: 10.1016/j.athplu.2022.05.005

Fištrek Prlić M, Ćorić M, Calabresi L, Pavanello C, Mosca L, Cavallari U, i sur.. Two novel variants in the lecithin: cholesterol acyltransferase gene resulted in classic LCAT deficiency. Atherosclerosis Plus [Internet]. 08.2022. [pristupljeno 13.04.2024.];49:28-31. doi: 10.1016/j.athplu.2022.05.005

M. Fištrek Prlić, et al., "Two novel variants in the lecithin: cholesterol acyltransferase gene resulted in classic LCAT deficiency", Atherosclerosis Plus, vol. 49, str. 28-31, Kolovoz 2022. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:605940. [Citirano: 13.04.2024.]

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Naslov (engleski)Two novel variants in the lecithin: cholesterol acyltransferase gene resulted in classic LCAT deficiency
AutorMargareta Fištrek Prlić
AutorMarijana Ćorić
AutorLaura Calabresi
AutorChiara Pavanello
AutorLorena Mosca
AutorUgo Cavallari
AutorIvana Vuković Brinar
AutorSandra Karanović
AutorMario Laganović
AutorBojan Jelaković
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
(KATEDRA ZA INTERNU MEDICINU)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Intenzivna medicina
Sažetak (engleski)
Background and aims: We report the first two cases of familial lecithin:cholesterol acyltransferase (LCAT) deficiency in Croatia with classical clinical and biochemical features. Patients and methods: A 30-year-old man with nephrotic syndrome, corneal opacities, hepatosplenomegaly, anemia, low high-density lipoprotein (HDL)-cholesterol levels and arterial hypertension (blood pressure >200/100 mmHg) was admitted to our department. At admission, he had an elevated creatinine serum level (233 μmol/L), proteinuria of 12 g in 24-h urine (g/24 h), 3-7 erythrocytes in urine sediment and notable anemia (hemoglobin level 90 g/l). His HDL-cholesterol was significantly low (0.42 mmol/L). Besides chronic kidney disease (CKD), other secondary causes of hypertension were ruled out. The patient was previously diagnosed with membranous nephropathy and treated unsuccessfully with immunosuppressive agents (steroids, cyclosporine, cyclophosphamide). Re-evaluation of histopathological findings of kidney biopsy revealed massive deposition of lipid material in the glomerular basal membrane and in the mesangial region. His 4-year younger brother was also evaluated due to corneal opacities and new-onset arterial hypertension. Nephrotic range proteinuria with preserved global renal function was determined. He also had very low HDL-cholesterol levels. Results: Kidney biopsies from both patients were consistent with LCAT deficiency. The disease was confirmed by measurement of LCAT enzyme activity, plasma cholesterol esterification rate, and genetic testing. Two novel missense variants in the LCAT gene (c.496G > A and c.1138T > C) were found. Conclusions: To our knowledge, the presented cases are the first reported cases of genetic LCAT deficiency in Croatia. Given the clinical presentation, the complete lack of LCAT activity and cholesterol esterification rate, diagnosis of familial LCAT deficiency was made.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaAtherosclerosis Plus
Brojčani podacivol. 49, str. 28-31
p-ISSN2667-0895
DOIhttps://doi.org/10.1016/j.athplu.2022.05.005
URN:NBNurn:nbn:hr:105:605940
Datum objave publikacije2022-08
URL dokumentahttps://linkinghub.elsevier.com/retrieve/pii/S2667089522000177
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Imenovanje-Nekomercijalno-Bez prerada 4.0 međunarodna (CC BY-NC-ND 4.0)
Datum i vrijeme pohrane2024-02-20 08:59:35