两只患有溶酶体酸性脂肪酶缺乏症的田野猎犬的胆固醇酯贮积病。
Cholesterol Ester Storage Disease in Two Field Spaniels With Lysosomal Acid Lipase Deficiency.
作者信息
Syrjä Pernilla, Ylenius Mathilda M H, Kråkström Matilda, Dickens Alex M, Rautala Elina, Huupponen Anna, Eriksson Anders, Viitanen Sanna J
机构信息
Department of Veterinary Biosciences, Section for Veterinary Pathology and Parasitology, Faculty of Veterinary Medicine, University of Helsinki, Helsinki, Finland.
Department of Equine and Small Animal Medicine, Faculty of Veterinary Medicine, University of Helsinki, Helsinki, Finland.
出版信息
J Vet Intern Med. 2025 Sep-Oct;39(5):e70223. doi: 10.1111/jvim.70223.
Cholesterol ester storage disease (CESD) is a rare genetic lysosomal storage disorder resulting from lower lysosomal acid lipase (LAL) activity. LAL is an essential enzyme required in intracellular lipid metabolism, and deficiency results in disability to properly break down and utilize lipids and in the accumulation of especially cholesterol esters in many organs such as the liver, spleen, and bone marrow. This case report describes clinical findings, LAL activity measurement, blood and liver tissue lipidomic changes, as well as pathological findings in two unrelated Field Spaniels with LAL deficiency and CESD.
胆固醇酯贮积病（CESD）是一种罕见的遗传性溶酶体贮积症，由溶酶体酸性脂肪酶（LAL）活性降低引起。LAL是细胞内脂质代谢所需的一种关键酶，其缺乏会导致无法正常分解和利用脂质，并导致特别是胆固醇酯在肝脏、脾脏和骨髓等许多器官中蓄积。本病例报告描述了两只 unrelated Field Spaniels 患LAL缺乏和CESD的临床发现、LAL活性测量、血液和肝脏组织脂质组学变化以及病理发现。 （注：“unrelated Field Spaniels”这里的“unrelated”不太明确准确意思，可能是“无亲缘关系的田野小猎犬”之类，整体翻译可能需结合更准确背景进一步完善）
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