朗格汉斯细胞组织细胞增多症:幼儿渗出性肠病的罕见病因

G. Movsisyan, A. D. Komarova, K. Kulikov, I. Kalinina, M. Lokhmatov, V. Oldakovskiy, R. Tepaev, E. Roslavtseva, A. Potapov, N. Shchigoleva, A. I. Materikin, K. Savostyanov
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引用次数: 0

摘要

渗出性肠病是一种临床综合征,其特征是蛋白质通过胃肠道大量流失,是各种胃肠道疾病的罕见并发症。蛋白质吸收不良最罕见的原因之一是朗格汉斯细胞组织细胞增多症,它是由有丝分裂原激活的蛋白激酶途径突变引起的髓前体细胞炎症性瘤变的结果。朗格汉斯细胞在肠壁内的异常增殖和积聚,导致淋巴流出受到侵犯,引起肠病的临床表现特征。胃肠道病变伴朗格汉斯细胞组织细胞增多症发生率为2-3%,且临床体征特异性不高,难以及时诊断。诊断验证的延迟和适当治疗的晚开始是多系统病变的危险因素,并导致不利的结果。文献描述了一些观察到的发病或表现的疾病与蛋白质吸收不良的症状。我们提出一个罕见的临床病例,诊断组织细胞增生从朗格汉斯细胞在发病严重表现为渗出性肠病的幼儿。患者的父母同意使用他们孩子的数据,包括照片,用于研究目的和出版物。难治性胃肠道症状需要强制内镜和组织学检查,以确定吸收不良的罕见原因。及时启动vemurafenib联合后续化疗的靶向治疗为患儿提供了良好的预后和疾病的稳定缓解。
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Langerhans cell histiocytosis: a rare cause of exudative enteropathy in a young child
Exudative enteropathy is a clinical syndrome characterized by excessive loss of proteins through the gastrointestinal tract and is a rare complication of various gastrointestinal diseases. One of the rarest causes of protein malabsorption is Langerhans cell histiocytosis, which occurs as a result of inflammatory neoplasia of myeloid precursor cells caused by mutations in the mitogenactivated protein kinase pathway. Abnormal proliferation and accumulation of Langerhans cells in the intestinal wall leads to a violation of the outflow of lymph, and causes clinical manifestations characteristic of enteropathy. Given that the lesion of the gastrointestinal tract with histiocytosis from Langerhans cells occurs in 2–3% of cases, and the clinical signs are not highly specific, timely diagnosis is difficult. Delayed verification of the diagnosis and late initiation of adequate treatment are risk factors for multisystem lesions and lead to an unfavorable outcome. The literature describes a few observations of the onset or manifestation of the disease with symptoms of protein malabsorption. We present a rare clinical case of diagnosing histiocytosis from Langerhans cells in a young child with severe manifestations of exudative enteropathy at the onset. The patient's parents gave their consent to the use of their child's data, including photographs, for research purposes and in publications.Refractory gastrointestinal symptoms require mandatory endoscopic and histological examination to identify rare causes of malabsorption. Timely initiation of targeted therapy with vemurafenib in combination with subsequent chemotherapy provided the child with a favorable prognosis and stable remission of the disease.
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来源期刊
Pediatric Hematology/Oncology and Immunopathology
Pediatric Hematology/Oncology and Immunopathology Medicine-Pediatrics, Perinatology and Child Health
CiteScore
0.40
自引率
0.00%
发文量
49
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