Delteil Clemence, Macagno Nicolas, Appay Romain, Uzan Marc, Jourde-Chiche Noemie, Daniel Laurent
Service d'anatomie et cytologie pathologiques, hôpital Timone, 264, rue Saint-Pierre, 13005 Marseille, France; CNRS, EFS, ADES, Aix Marseille université, 13015 Marseille, France.
Service d'anatomie et cytologie pathologiques, hôpital Timone, 264, rue Saint-Pierre, 13005 Marseille, France.
Ann Pathol. 2019 Apr;39(2):172-176. doi: 10.1016/j.annpat.2018.09.005. Epub 2018 Dec 12.
Glomerulopathy associated with lecithin-cholesterol-acyltransferase deficiency (LCAT) is a rare automosal recessive disease. Acquired LCAT deficiency due to inhibitory autoantibodies against LCAT are also described. This disease is induced by systemic deposits related to a lipid metabolism disorder and lead to multi-organ involvement including renal involvement. Lipid profile usually shows variable cholesterol levels but very low HDL levels. Here we describe the case of a 33-year-old man presenting a nephrotic syndrome associated with moderate renal insufficiency for which the pathological analysis allowed to guide towards the diagnosis of LCAT deficiency. Laboratory and genetic data confirmed this diagnosis. Familial history and lipid profile abnormalities are important in the identification of this disease.
与卵磷脂胆固醇酰基转移酶缺乏症（LCAT）相关的肾小球病是一种罕见的常染色体隐性疾病。也有关于因针对LCAT的抑制性自身抗体导致获得性LCAT缺乏症的描述。这种疾病由与脂质代谢紊乱相关的全身性沉积物诱发，并导致包括肾脏受累在内的多器官受累。血脂通常显示胆固醇水平可变，但高密度脂蛋白水平极低。在此，我们描述了一名33岁男性的病例，该患者表现为肾病综合征并伴有中度肾功能不全，病理分析有助于诊断LCAT缺乏症。实验室和基因数据证实了这一诊断。家族史和血脂异常在该疾病的识别中很重要。
