Corticosteroid treatment of kidney disease in a patient with familial lecithin-cholesterol acyltransferase deficiency
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Przemys³aw Miarka Barbara Idzior-Walus´ Marek Kuz´niewski Ma³gorzata Walus´-Miarka Tomasz Klupa W³adys³aw Su³owicz
- چاپ و سال / کشور: 2011
Description
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.
Clin Exp Nephrol (2011) 15:424–429 Received: 10 November 2010 / Accepted: 6 January 2011 / Published online: 16 February 2011 Japanese Society of Nephrology 2011
