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Scientific paper - Original scientific paper
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, pp. 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 and 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, pp. 28-31. doi: 10.1016/j.athplu.2022.05.005

Fištrek Prlić M, Ćorić M, Calabresi L, Pavanello C, Mosca L, Cavallari U, and sur.. Two novel variants in the lecithin: cholesterol acyltransferase gene resulted in classic LCAT deficiency. Atherosclerosis Plus [Internet]. 2022 August [cited 2024 December 30];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, pp. 28-31, August 2022. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:605940. [Accessed: 30 December 2024]

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Metadata
Title (english)Two novel variants in the lecithin: cholesterol acyltransferase gene resulted in classic LCAT deficiency
AuthorMargareta Fištrek Prlić
AuthorMarijana Ćorić
AuthorLaura Calabresi
AuthorChiara Pavanello
AuthorLorena Mosca
AuthorUgo Cavallari
AuthorIvana Vuković Brinar
AuthorSandra Karanović
AuthorMario Laganović
AuthorBojan Jelaković
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Internal Medicine)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Intensive Care
Abstract (english)
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.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleAtherosclerosis Plus
Numberingvol. 49, pp. 28-31
p-ISSN2667-0895
DOIhttps://doi.org/10.1016/j.athplu.2022.05.005
URN:NBNurn:nbn:hr:105:605940
Publication2022-08
Document URLhttps://linkinghub.elsevier.com/retrieve/pii/S2667089522000177
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) icon
Created on2024-02-20 08:59:35