#6143 FAMILIAL LECITHIN: CHOLESTEROL ACYLTRANSFERASE (LCAT) DEFICIENCY AS A CAUSE OF CHRONIC KIDNEY DISEASE – A CASE REPORT
نویسندگان
چکیده
Abstract Background and Aims Genetic causes of chronic kidney disease are becoming more recognized. Familial lecithin: cholesterol acyltransferase (LCAT) deficiency (FLD) is a rare genetic disorder caused by loss function mutations in LCAT gene. Patients present with abnormal lipid profile characterized markedly reduced HDL-C, corneal opacification, anemia, renal disease, which eventually progresses to failure. Several studies reported variants gene that associated FLD, others certain apolipoprotein genes act as risk factors for the disease. Incomplete form mutation, leads fish-eye progressive opacification. FLD was described from Europe, Latin North America, Australia Japan. In Jordan, clinical patients absent. Method We 36-year-old female who presented nephrotic-range proteinuria, high serum creatinine, hypertension opacity. Further examination showed severely HDL level, an increased triglycerides anemia mild thrombocytopenia. Patient's laboratory values at presentation shown Table 1. Her blood film normocytic normochromic red cells, anisopoikilocytosis target cells. Light electron microscopy biopsy revealed intramembranous, subendothelial mesangial deposition vacuolization. addition, patient found have family history opacity Therefore, suspected. Whole exome sequencing employed identify variants. Results The be homozygous 154+5delG gene, heterozygous 388T>C E (APOE) 1114G>C WW domain-containing oxidoreductase (WWOX). patient's managed supportively low salt diet, moderate protein intake, statins, angiotensin receptor blockers pressure control. After one year follow up, her creatinine 220 μmol/l estimated proteinuria 1.2 gm/24 hrs. Conclusion should suspected significantly Family members also screened mutation To date, treatment mainly supportive enzyme replacement therapy not yet widely available.
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 lecithin-cholesterol acyltransferase deficiency.
Familial lecithin-cholesterol acyltransferase deficiency is an uncommon autosomal recessive disorder from a heritable defect in esterification of plasma cholesterol. In 1968, the disease was described by Gjone and Norum in Norway. Our case was a 38-year-old woman. Her disease was manifested by presence of lower extremities edema, proteinuria, corneal opacities, increased plasma cholesterol, and...
متن کاملFamilial Lecithin Cholesterol Acyl Transferase Deficiency with Chronic Kidney Disease.
Familial lecithin-cholesterol acyltransferase (LCAT) deficiency is a rare autosomal recessive (AR) disease caused by mutation in the LCAT gene. LCAT enzyme esterifies cholesterol molecules in high-density lipoprotein(HDL) and low density-lipoprotein (LDL) particles. This enzyme deficiency is characterised by progressive corneal opacification, glomerulopathy, mild - moderate haemolytic anaemia a...
متن کاملCatalytically inactive lecithin: cholesterol acyltransferase (LCAT) caused by a Gly 30 to Ser mutation in a family with LCAT deficiency.
Plasma lecithin:cholesterol acyltransferase (LCAT) plays an important role in early steps of reverse cholesterol transport, i.e., cholesterol efflux from peripheral tissues and cholesterol esterification in HDL. However, structural and functional relationships of LCAT have not been fully elucidated. We described a missense mutation of Gly 30-to-Ser in a patient with classical LCAT deficiency. T...
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: Nephrology Dialysis Transplantation
سال: 2023
ISSN: ['1460-2385', '0931-0509']
DOI: https://doi.org/10.1093/ndt/gfad063c_6143