一个阿尔及利亚家庭的快速进展性肾衰竭揭示LCAT缺乏症。

IF 1.1 4区 医学 Q3 UROLOGY & NEPHROLOGY
Ghalia Khellaf, Ali Benziane, Louiza Kaci, Soumia Missoum, Mourad Lahmar, Mohamed Benabadji
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引用次数: 0

摘要

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,可以揭示两种不同的疾病:完全酶缺乏症的一个非常有趣的肾病图,其特征是血脂异常、角膜混浊、贫血和进行性肾病;部分形式(鱼眼病)仅伴有血脂异常和进行性角膜混浊。我们在此报告一例35岁男性患者,他表现为高血压,肾脏症状与快速进展性肾小球肾炎相关:肾病性蛋白尿,严重肾功能衰竭,合并角膜环形混浊,贫血和血脂异常。经临床检查、特征性血脂异常、血浆LCAT水平未检出、家族史阳性证实家族性LCAT缺乏症。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Rapidly progressive renal failure to reveal LCAT deficiency in an Algerian family.

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.

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来源期刊
Clinical nephrology
Clinical nephrology 医学-泌尿学与肾脏学
CiteScore
2.10
自引率
9.10%
发文量
138
审稿时长
4-8 weeks
期刊介绍: Clinical Nephrology appears monthly and publishes manuscripts containing original material with emphasis on the following topics: prophylaxis, pathophysiology, immunology, diagnosis, therapy, experimental approaches and dialysis and transplantation.
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