Familial LCAT Deficiency
نویسندگان
چکیده
منابع مشابه
Familial lecithin-cholesterol acyltransferase (LCAT) deficiency; a differential of proteinuria
BACKGROUND Lecithin cholesterol acyltransferase (LCAT) is an important enzyme in cholesterol metabolism that is involved in the esterification of cholesterol. A lack of this enzyme results in deranged metabolic pathways that are not completely understood, resulting in abnormal deposition of lipids in several organs. Clinically, it manifests with proteinuria, dyslipidemia and corneal opacity wit...
متن کاملFamilial LCAT deficiency: from renal replacement to enzyme replacement.
Familial LCAT deficiency (FLD) is a recessive lipid disorder ultimately leading to end-stage renal disease (ESRD). We present two brothers with considerable variation in the age at which they developed ESRD. Kidney biopsies revealed both tubular and glomerular pathology. To date, no causal therapy is available, yet enzyme replacement therapy is in development.
متن کاملRecombinant human LCAT normalizes plasma lipoprotein profile in LCAT deficiency.
Lecithin:cholesterol acyltransferase (LCAT) is the enzyme responsible for cholesterol esterification in plasma. Mutations in the LCAT gene leads to two rare disorders, familial LCAT deficiency and fish-eye disease, both characterized by severe hypoalphalipoproteinemia associated with several lipoprotein abnormalities. No specific treatment is presently available for genetic LCAT deficiency. In ...
متن کاملStability of lipids on peritoneal dialysis in a patient with familial LCAT deficiency.
A 37-year-old man of northern European descent with familial lecithin:cholesterol acyltransferase (LCAT) deficiency started peritoneal dialysis (PD) one year ago, for end-stage renal failure. Proteinuria and an abnormal lipid profile were first noted in his early 20s. At the age of 29, he suffered an alkali burn to his right eye. When assessed by an ophthalmologist, diffuse lipid deposition in ...
متن کاملTwo novel point mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in LCAT deficiency: LCAT (G873 deletion) and LCAT (Gly344-->Ser).
We investigated the genetic defects in two patients with familial lecithin:cholesterol acyltransferase (LCAT) deficiency. Their clinical manifestations including corneal opacities, anemia, proteinuria, and hypoalphalipoproteinemia were identical for familial LCAT deficiency. Their LCAT activities and the cholesterol esterification rate (CER) were nearly zero, and their LCAT masses were below 10...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The Journal of Japan Atherosclerosis Society
سال: 1983
ISSN: 0386-2682,2185-8284
DOI: 10.5551/jat1973.11.5_1215