Affordable Access

Hereditary lecithin-cholesterol acyltransferase deficiency. Report of 2 new cases and review of the literature.

Authors
Type
Published Article
Journal
Clinical and investigative medicine. Médecine clinique et experimentale
Publication Date
Volume
6
Issue
1
Pages
49–55
Identifiers
PMID: 6831794
Source
Medline
License
Unknown

Abstract

Two new cases of hereditary lecithin-cholesterol acyltransferase (LCAT) deficiency in a brother and sister born to consanguinous parents are reported. Both have corneal opacity, splenomegaly and mild hemolytic anemia. The brother, the older of the 2, also has significant proteinuria. The literature dealing with reported cases of hereditary LCAT deficiency and the clinical, pathological, diagnostic and management aspects of the disorder are reviewed.

Statistics

Seen <100 times