caa a22 4500 445883006 CHVBK 20180317145550.0 cr unu---uuuuu 170323e20110601xx s 000 0 eng 10.1007/s10157-011-0409-1 doi (NATIONALLICENCE)springer-10.1007/s10157-011-0409-1 Corticosteroid treatment of kidney disease in a patient with familial lecithin-cholesterol acyltransferase deficiency [Elektronische Daten] [Przemysław Miarka, Barbara Idzior-Waluś, Marek Kuźniewski, Małgorzata Waluś-Miarka, Tomasz Klupa, Władysław Sułowicz] Familial lecithin-cholesterol acyltransferase (LCAT) deficiency (FLD) is a rare genetic disorder of lipid metabolism, characterised by low plasma HDL cholesterol, proteinuria, haemolytic anaemia and corneal opacities. Usually renal disease progresses during the third decade of life to renal failure; however the pathogenesis of renal disease is not well understood. In this study we describe treatment of renal disease in two siblings with FLD. The proband WX at the age of 31years presented proteinuria and ankle oedema during her third pregnancy. Diagnosis of FLD was based on a renal biopsy with characteristic serpiginous fibrillar deposits under electron microscopy, markedly decreased HDL cholesterol, esterified cholesterol levels and LCAT activity, confirmed by molecular analysis. After 3years her proteinuria increased and she received an ACE inhibitor to which she responded well. During further increases of proteinuria she additionally received methylprednisolone and her proteinuria decreased. This long-term observation indicates the efficacy of corticosteroids and renin−angiotensin−aldosterone system blockers in the treatment of proteinuria in patients with FLD. The results suggest the role of inflammatory processes as well as dyslipidemia in the pathogenesis of glomerular disorders in LCAT-deficient patients. Japanese Society of Nephrology, 2011 Familial LCAT deficiency nationallicence Kidney disease nationallicence HDL cholesterol nationallicence Miarka Przemysław Department of Nephrology, Medical College, Jagiellonian University, Kraków, Poland aut Idzior-Waluś Barbara Department of Metabolic Diseases, Medical College, Jagiellonian University, Kopernika Street 15, 31-501, Kraków, Poland aut Kuźniewski Marek Department of Nephrology, Medical College, Jagiellonian University, Kraków, Poland aut Waluś-Miarka Małgorzata Department of Metabolic Diseases, Medical College, Jagiellonian University, Kopernika Street 15, 31-501, Kraków, Poland aut Klupa Tomasz Department of Metabolic Diseases, Medical College, Jagiellonian University, Kopernika Street 15, 31-501, Kraków, Poland aut Sułowicz Władysław Department of Nephrology, Medical College, Jagiellonian University, Kraków, Poland aut Clinical and Experimental Nephrology Springer Japan 15/3(2011-06-01), 424-429 1342-1751 15:3<424 2011 15 10157 https://doi.org/10.1007/s10157-011-0409-1 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10157-011-0409-1 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Miarka Przemysław Department of Nephrology, Medical College, Jagiellonian University, Kraków, Poland aut NATIONALLICENCE 700 1- Idzior-Waluś Barbara Department of Metabolic Diseases, Medical College, Jagiellonian University, Kopernika Street 15, 31-501, Kraków, Poland aut NATIONALLICENCE 700 1- Kuźniewski Marek Department of Nephrology, Medical College, Jagiellonian University, Kraków, Poland aut NATIONALLICENCE 700 1- Waluś-Miarka Małgorzata Department of Metabolic Diseases, Medical College, Jagiellonian University, Kopernika Street 15, 31-501, Kraków, Poland aut NATIONALLICENCE 700 1- Klupa Tomasz Department of Metabolic Diseases, Medical College, Jagiellonian University, Kopernika Street 15, 31-501, Kraków, Poland aut NATIONALLICENCE 700 1- Sułowicz Władysław Department of Nephrology, Medical College, Jagiellonian University, Kraków, Poland aut NATIONALLICENCE 773 0- Clinical and Experimental Nephrology Springer Japan 15/3(2011-06-01), 424-429 1342-1751 15:3<424 2011 15 10157 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer