dgat1相关蛋白丢失性肠病:俄罗斯首例临床病例报告

Q3 Medicine

Voprosy Detskoi Dietologii Pub Date : 2023-01-01 DOI:10.20953/1727-5784-2023-1-83-92

E. Kostomarova, I. V. Zhuravleva, O.V. Pravoslavnaya, P. Shumilov, T.G. Demyanova, A. Chubarova, E. Tumanova, Y. Dmitrieva, A. Yudina, E. I. Epifanova, N. S. Korchagina

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引用次数: 0

摘要

DGAT1相关蛋白缺失性肠病是一种罕见的常染色体隐性遗传病，与先天性腹泻有关，与编码DGAT1酶的DGAT1基因突变有关，DGAT1酶在肠细胞中负责甘油三酯再合成的最后一步。由于DGAT1酶活性不足，脂肪酸和二酰基甘油在肠细胞内积聚，具有细胞毒性作用，导致肠细胞凋亡。结果，萎缩性肠病发展，表现为生命最初几个月的蛋白质丢失性腹泻，缺铁性贫血和维生素D缺乏。目前已知的dgat1相关肠病的治疗方法是低脂饮食和肠外营养。本文介绍了俄罗斯联邦第一例遗传证实的dgat1相关蛋白丢失性肠病的临床病例。关键词:DGAT1，肠病，先天性腹泻，蛋白质失失性腹泻，儿童

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DGAT1-associated protein-losing enteropathy: the first clinical case report in Russia

DGAT1-associated protein-losing enteropathy is a rare autosomal recessive disorder related to congenital diarrhea and associated with a mutation in the DGAT1 gene that encodes the enzyme DGAT1, which is responsible for the final step of triglyceride resynthesis in enterocytes. With insufficient activity of DGAT1 enzyme, fatty acids and diacylglycerols accumulate in the enterocyte, having a cytotoxic effect and causing enterocyte apoptosis. As a result, atrophic enteropathy develops, which is manifested as protein-losing diarrhea from the first months of life, iron deficiency anemia, and vitamin D deficiency. The currently known treatment methods for DGAT1-associated enteropathy are a low-fat diet and parenteral nutrition. This article presents the first genetically confirmed clinical case of DGAT1-associated protein-losing enteropathy in the Russian Federation. Key words: DGAT1, enteropathy, congenital diarrhea, protein-losing diarrhea, children

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来源期刊

Voprosy Detskoi Dietologii Medicine-Pediatrics, Perinatology and Child Health

CiteScore

1.20

自引率

0.00%

发文量

期刊介绍： The scientific journal Voprosy Detskoi Dietologii is included in the Scopus database. Publisher country is RU. The main subject areas of published articles are Food Science, Pediatrics, Perinatology, and Child Health, Nutrition and Dietetics, Клиническая медицина.