[Clinical features of lecithin-cholesterol acyltransferase deficiency].
Lecithin-cholesterol acyltransferase (LCAT) is involved in esterify of free cholesterol and in the cholesterol esters transport from peripheral tissues to the liver. Genetically dependent lack of enzyme activity leads to Fish Eye Disease and to familial LCAT deficiency. There are specific abnormalities of plasma lipids and lipid deposits in multiple tissues (familial LCAT deficiency) or in corneal only (Fish Eye Disease). Clinical features of familial LCAT deficiency include corneal opacities, anemia, and proteinuria. Renal failure is the most frequent complication, occurring in the fourth decade. Treatment of familial LCAT deficiency is based on infusions of plasma or whole blood and on kidney transplantation.
Hrycek
A
A
II Katedry i Kliniki Chorób Wewnetrznych Slaskiej A.M. w Katowicach.
Cieślik
P
P
Trzeciak
H I
HI
D006801:Humans; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000175:diagnosis* / Q000628:therapy
Obraz kliniczny deficytu acylotransferazy lecytynowo-cholesterolowej.