title: Lecithin: Cholesterol Acyltransferase (LCAT) Deficiency: renal lesions with early graft recurrence.
abstract: Familial lecithin:cholesterol acyltransferase (LCAT) deficiency is a rare metabolic disease with lipid deposition in several organs. The authors report a man with hypertension and proteinuria. Renal biopsy revealed glomerular changes, including peculiar thrombus-like deposits, consistent with LCAT deficiency. He was found to be compound heterozygous for two mutations of the LCAT gene. He received a kidney graft from his father. The authors also describe LCAT deficiency-related lesions in the explanted native kidneys and in biopsies at 2 days, 6 weeks, and 1 year after transplantation. The morphology of this disease is characteristic, and the diagnosis should be suspected from the ultrastructural findings.
authors.affiliation: Department of Pathology, Oslo University Hospital, Rikshospitalet, Oslo, Norway. erstrom@rikshospitalet.no
authors.forename: Erik H
authors.initials: EH
authors.lastname: Strøm
authors.forename: Ståle
authors.initials: S
authors.lastname: Sund
authors.forename: Morten
authors.initials: M
authors.lastname: Reier-Nilsen
authors.forename: Christina
authors.initials: C
authors.lastname: Dørje
authors.forename: Trond P
authors.initials: TP
authors.lastname: Leren
mesh_terms: D005260:Female; D006579:Heterozygote; D006801:Humans; D007668:Kidney / Q000201:enzymology; D007674:Kidney Diseases / Q000201:enzymology / Q000235:genetics* / Q000601:surgery; D007678:Kidney Glomerulus / Q000648:ultrastructure; D016030:Kidney Transplantation; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000235:genetics; D008297:Male; D009154:Mutation; D012008:Recurrence; D055815:Young Adult