title: [Familial LCAT deficiency--clinical picture. Case report].
abstract: We report a case of familial LCAT deficiency, diagnosed in a 35 year old women. The disease manifested itself by a presence of proteinuria, corneal opacities and haemolytic anaemia with target cells. Suspecion of familial LCAT deficiency was based on renal biopsy, which revealed characteristic serpiginous fibrillar deposits in electron microscopy. The diagnosis was confirmed by a marked decrease of estrified cholesterol, low HDL-cholesterol concentration, decrease of LCAT activity in serum, typical "stacked coins" picture of HDL lipoproteins in electron microscopy examination and positive familial history--diagnosis of LCAT deficiency in dialysed brother of patient.
authors.affiliation: Katedra i Klinika Chorób Metabolicznych Collegium Medicum UJ w Krakowie.
authors.forename: B
authors.initials: B
authors.lastname: Idzior-Waluś
authors.forename: J
authors.initials: J
authors.lastname: Sieradzki
authors.forename: W
authors.initials: W
authors.lastname: Rostworowski
authors.forename: J
authors.initials: J
authors.lastname: Hartwich
authors.forename: F
authors.initials: F
authors.lastname: Kaczmarski
authors.forename: M
authors.initials: M
authors.lastname: Dubiel-Bigaj
authors.forename: W
authors.initials: W
authors.lastname: Dabroś
mesh_terms: D000328:Adult; D001706:Biopsy; D008076:Cholesterol, HDL / Q000097:blood; D005260:Female; D006801:Humans; D007668:Kidney / Q000473:pathology; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000175:diagnosis* / Q000235:genetics*; D008075:Lipoproteins, HDL / Q000648:ultrastructure
chemical_list: D008076:Cholesterol, HDL; D008075:Lipoproteins, HDL