Ten-year clinical course of familial lecithin-cholesterol acyltransferase deficiency caused by Cys74Tyr mutation leading to dialysis and multiple systemic complications: a case report.

Abstract excerpt

Familial lecithin-cholesterol acyltransferase deficiency (FLD) is a rare hereditary disorder. In FLD, a clinical triad of corneal opacity, anemia, and proteinuria typically precedes progressive renal dysfunction. Although early renal involvement has been widely described, there are limited reports on the long-term course leading to dialysis initiation, including systemic complications. We present a genetically...

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