Clin Nephrol. 2023 Feb;99(2):92-97. doi: 10.5414/CN110850.
Lecithin-cholesterol acyltransferase (LCAT) deficiency is an autosomal recessive disorder that can reveal two different diseases: a very interesting nephrological picture of complete enzyme deficiency characterized by the association of dyslipidemia, corneal opacities, anemia, and progressive nephropathy; and a partial form (fish-eye disease) with dyslipidemia and progressive corneal opacities only. We report herein the case of a 35-year-old man who presented hypertension, renal symptomatology of rapidly progressive glomerulonephritis associates: nephrotic proteinuria, severe renal failure, in combination with annular corneal opacities, anemia, and dyslipidemia. The diagnosis of familial LCAT deficiency was confirmed by clinical examination, characteristic dyslipidemia, undetectable LCAT levels in plasma, and positive family history.
卵磷脂胆固醇酰基转移酶(LCAT)缺乏症是一种常染色体隐性遗传病,可表现为两种不同的疾病:一种是完全酶缺乏的非常有趣的肾脏疾病表现,其特征是血脂异常、角膜混浊、贫血和进行性肾病的联合;另一种是部分形式(鱼眼病),仅伴有血脂异常和进行性角膜混浊。本文报告了一例 35 岁男性,表现为高血压、快速进行性肾小球肾炎的肾脏症状:肾病性蛋白尿、严重肾衰竭,伴有环状角膜混浊、贫血和血脂异常。家族性 LCAT 缺乏症的诊断通过临床检查、特征性血脂异常、血浆中 LCAT 水平检测不到以及阳性家族史得到证实。