LCAT deficiency as a cause of proteinuria and corneal opacification

BMJ Case Rep. 2018 Mar 13:2018:bcr2017224129. doi: 10.1136/bcr-2017-224129.

Authors

Enrique Morales^#¹, Marina Alonso², Beatriz Sarmiento³, Montserrat Morales^#⁴

Affiliations

¹ Department of Nephrology, Hospital Universitario 12 de Octubre, Madrid, Spain.
² Department of Pathology, Hospital Universitario 12 de Octubre, Madrid, Spain.
³ Department of Ophthalmology, Hospital Universitario 12 de Octubre, Madrid, Spain.
⁴ Department of Internal Medicine, Hospital Universitario 12 de Octubre, Madrid, Spain.

^# Contributed equally.

No abstract available

Keywords: chronic renal failure; genetic screening / counselling; proteinuria; visual pathway.

Publication types

Case Reports

MeSH terms

Adult
Corneal Opacity / etiology*
Female
Humans
Lecithin Cholesterol Acyltransferase Deficiency / complications*
Lecithin Cholesterol Acyltransferase Deficiency / diagnosis*
Lecithin Cholesterol Acyltransferase Deficiency / pathology
Phosphatidylcholine-Sterol O-Acyltransferase / blood
Phosphatidylcholine-Sterol O-Acyltransferase / genetics
Proteinuria / etiology*

Substances

Phosphatidylcholine-Sterol O-Acyltransferase