title: Therapeutic management of a new case of LCAT deficiency with a multifactorial long-term approach based on high doses of angiotensin II receptor blockers (ARBs).
abstract: Familial lecithin cholesterol acyltransferase (LCAT) deficiency (FLD) is characterized by the appearance of corneal opacity, anemia, proteinuria progressing to chronic renal failure and abnormalities in the composition of plasma lipoproteins. No established therapy currently exists for this condition. We report here a new case of FLD caused by two novel mutations in the LCAT gene in which, for the first time, aggressive therapy with angiotensin II receptor blockers and lipid-lowering drugs showed benefit in blood pressure, lipid abnormalities, proteinuria and also kidney function, probably delaying progression to renal failure.
authors.affiliation: Nephrology and Pathology, Hospital Carlos Haya, SAS, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Aranda
authors.forename: P
authors.initials: P
authors.lastname: Valdivielso
authors.forename: L
authors.initials: L
authors.lastname: Pisciotta
authors.forename: I
authors.initials: I
authors.lastname: Garcia
authors.forename: C
authors.initials: C
authors.lastname: Garcã A-Arias
authors.forename: S
authors.initials: S
authors.lastname: Bertolini
authors.forename: G
authors.initials: G
authors.lastname: Martã N-Reyes
authors.lastname: Gonzã Lez-Santos
authors.forename: S
authors.initials: S
authors.lastname: Calandra
mesh_terms: D000328:Adult; D047228:Angiotensin II Type 1 Receptor Blockers / Q000008:administration & dosage*; D004247:DNA / Q000235:genetics; D004305:Dose-Response Relationship, Drug; D004587:Electrophoresis, Agar Gel; D005500:Follow-Up Studies; D006801:Humans; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000188:drug therapy* / Q000201:enzymology / Q000235:genetics; D008297:Male; D007862:Phosphatidylcholine-Sterol O-Acyltransferase / Q000097:blood / Q000235:genetics; D017354:Point Mutation; D013997:Time Factors
chemical_list: D047228:Angiotensin II Type 1 Receptor Blockers; D004247:DNA; D007862:Phosphatidylcholine-Sterol O-Acyltransferase