title: Corticosteroid treatment of kidney disease in a patient with familial lecithin-cholesterol acyltransferase deficiency.
abstract: 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 31 years 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 3 years 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.
authors.affiliation: Department of Nephrology, Medical College, Jagiellonian University, Kraków, Poland.
authors.forename: Przemysław
authors.initials: P
authors.lastname: Miarka
authors.affiliation: Department of Metabolic Diseases, Medical College, Jagiellonian University, Kopernika Street 15, 31-501, Kraków, Poland. mmwalus@cyf-kr.edu.pl.
authors.forename: Barbara
authors.initials: B
authors.lastname: Idzior-Waluś
authors.affiliation: Department of Nephrology, Medical College, Jagiellonian University, Kraków, Poland.
authors.forename: Marek
authors.initials: M
authors.lastname: Kuźniewski
authors.affiliation: Department of Metabolic Diseases, Medical College, Jagiellonian University, Kopernika Street 15, 31-501, Kraków, Poland.
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Waluś-Miarka
authors.affiliation: Department of Metabolic Diseases, Medical College, Jagiellonian University, Kopernika Street 15, 31-501, Kraków, Poland.
authors.forename: Tomasz
authors.initials: T
authors.lastname: Klupa
authors.affiliation: Department of Nephrology, Medical College, Jagiellonian University, Kraków, Poland.
authors.forename: Władysław
authors.initials: W
authors.lastname: Sułowicz
mesh_terms: D000328:Adult; D047228:Angiotensin II Type 1 Receptor Blockers / Q000627:therapeutic use; D000806:Angiotensin-Converting Enzyme Inhibitors / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000150:complications* / Q000188:drug therapy / Q000473:pathology; D008297:Male; D008775:Methylprednisolone / Q000627:therapeutic use*; D011247:Pregnancy; D011507:Proteinuria / Q000188:drug therapy / Q000209:etiology*
chemical_list: D047228:Angiotensin II Type 1 Receptor Blockers; D000806:Angiotensin-Converting Enzyme Inhibitors; D008775:Methylprednisolone