乌克兰孤儿透明纤维瘤综合征1例

O. Redko, O. Smiyan, A. Loboda, Viktoriia Petrashenko, I. Shkolna, Ihor Zaitsev, Sergiy Redko, Anzhela Klochko, Tetyana Obzor, Ruban Kyrylo
{"title":"乌克兰孤儿透明纤维瘤综合征1例","authors":"O. Redko, O. Smiyan, A. Loboda, Viktoriia Petrashenko, I. Shkolna, Ihor Zaitsev, Sergiy Redko, Anzhela Klochko, Tetyana Obzor, Ruban Kyrylo","doi":"10.21272/eumj.2023;11(2):127-135","DOIUrl":null,"url":null,"abstract":"Background. Hyaline fibromatosis syndrome is a rare, highly dramatic, autosomal recessive multisystem disorder. The basis of the disease is the abnormal diffuse deposition of hyaline material in the connective tissue and internal organs. Mutations in the CMG2 gene (also known as the ANTXR2 gene) cause the disease. CMG2 encodes a transmembrane protein involved in endothelial development. Hyaline fibromatosis syndrome involves two allelic diseases that have the same phenotype. These are infantile systemic hyalinosis and juvenile hyaline fibromatosis. Common signs of these diseases are pain, joint contractures, skin lesions (thickening of the skin with areas of hyperpigmentation, pearl-sized nodules or papules), subcutaneous nodules on the head, neck, and extremities, gingival hypertrophy, osteopenia, protein-losing enteropathy, increased susceptibility to infectious diseases. Diseases differ in the time of the first clinical signs onset, the severity of the course, and the life expectancy of patients. In the case of infantile systemic hyalinosis, the prognosis is fatal. Hyaline fibromatosis syndrome is an orphan disease that is very difficult to diagnose. There is no pathogenetic treatment for the disease today.\nClinical case. We described a case of hyaline fibromatosis syndrome in a boy who was observed and treated at the Municipal Non-Profit Enterprise of Sumy Regional Council \"Regional Children's Clinical Hospital\" (Ukraine). The diagnosis was made based on medical and genetic analysis. The early manifestation of symptoms and the severe course of the disease forced us to think about infantile systemic hyalinosis in the child. Along with characteristic external phenotypic signs, severe enteropathy with protein loss and persistent infections were observed in the child. As far as we know, this is the first case of the disease diagnosed in Ukraine. \nThis publication aims to draw medical professionals' attention to the diversity of the course of genetic diseases in children. Comprehensive care, timely and symptomatic treatment make it possible to prolong the life of patients.","PeriodicalId":315243,"journal":{"name":"Eastern Ukrainian Medical Journal","volume":"70 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A CASE OF ORPHAN HYALINE FIBROMATOSIS SYNDROME IN UKRAINE\",\"authors\":\"O. Redko, O. Smiyan, A. Loboda, Viktoriia Petrashenko, I. Shkolna, Ihor Zaitsev, Sergiy Redko, Anzhela Klochko, Tetyana Obzor, Ruban Kyrylo\",\"doi\":\"10.21272/eumj.2023;11(2):127-135\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Background. Hyaline fibromatosis syndrome is a rare, highly dramatic, autosomal recessive multisystem disorder. The basis of the disease is the abnormal diffuse deposition of hyaline material in the connective tissue and internal organs. Mutations in the CMG2 gene (also known as the ANTXR2 gene) cause the disease. CMG2 encodes a transmembrane protein involved in endothelial development. Hyaline fibromatosis syndrome involves two allelic diseases that have the same phenotype. These are infantile systemic hyalinosis and juvenile hyaline fibromatosis. Common signs of these diseases are pain, joint contractures, skin lesions (thickening of the skin with areas of hyperpigmentation, pearl-sized nodules or papules), subcutaneous nodules on the head, neck, and extremities, gingival hypertrophy, osteopenia, protein-losing enteropathy, increased susceptibility to infectious diseases. Diseases differ in the time of the first clinical signs onset, the severity of the course, and the life expectancy of patients. In the case of infantile systemic hyalinosis, the prognosis is fatal. Hyaline fibromatosis syndrome is an orphan disease that is very difficult to diagnose. There is no pathogenetic treatment for the disease today.\\nClinical case. We described a case of hyaline fibromatosis syndrome in a boy who was observed and treated at the Municipal Non-Profit Enterprise of Sumy Regional Council \\\"Regional Children's Clinical Hospital\\\" (Ukraine). The diagnosis was made based on medical and genetic analysis. The early manifestation of symptoms and the severe course of the disease forced us to think about infantile systemic hyalinosis in the child. Along with characteristic external phenotypic signs, severe enteropathy with protein loss and persistent infections were observed in the child. As far as we know, this is the first case of the disease diagnosed in Ukraine. \\nThis publication aims to draw medical professionals' attention to the diversity of the course of genetic diseases in children. Comprehensive care, timely and symptomatic treatment make it possible to prolong the life of patients.\",\"PeriodicalId\":315243,\"journal\":{\"name\":\"Eastern Ukrainian Medical Journal\",\"volume\":\"70 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1900-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Eastern Ukrainian Medical Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.21272/eumj.2023;11(2):127-135\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Eastern Ukrainian Medical Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.21272/eumj.2023;11(2):127-135","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

摘要

背景。透明纤维瘤病综合征是一种罕见的、高度戏剧性的常染色体隐性多系统疾病。这种疾病的基础是结缔组织和内脏器官中透明物质的异常弥漫性沉积。CMG2基因(也称为ANTXR2基因)的突变导致了这种疾病。CMG2编码一种参与内皮细胞发育的跨膜蛋白。透明纤维瘤病综合征涉及两种具有相同表型的等位基因疾病。这些是婴儿全身性透明质病和青少年透明质纤维瘤病。这些疾病的常见症状是疼痛、关节挛缩、皮肤病变(皮肤增厚,伴有色素沉着、珍珠大小的结节或丘疹)、头、颈和四肢皮下结节、牙龈肥大、骨质减少、蛋白质丢失性肠病、对传染病的易感性增加。疾病在首次出现临床症状的时间、病程的严重程度和患者的预期寿命方面有所不同。对于婴儿全身性透明质病,其预后是致命的。透明纤维瘤综合征是一种罕见病,很难诊断。目前还没有针对这种疾病的致病治疗方法。临床病例。我们描述了一例透明纤维瘤综合征的男孩,他在苏梅地区理事会的市非营利企业“地区儿童临床医院”(乌克兰)观察和治疗。诊断是根据医学和基因分析作出的。早期症状的表现和疾病的严重进程迫使我们考虑儿童全身性透明质病。随着特征性的外部表型征象,在儿童中观察到严重的肠病,伴有蛋白质丢失和持续感染。据我们所知,这是乌克兰确诊的第一例该病。本出版物旨在提请医学专业人员注意儿童遗传疾病病程的多样性。全面护理,及时对症治疗,使延长患者生命成为可能。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A CASE OF ORPHAN HYALINE FIBROMATOSIS SYNDROME IN UKRAINE
Background. Hyaline fibromatosis syndrome is a rare, highly dramatic, autosomal recessive multisystem disorder. The basis of the disease is the abnormal diffuse deposition of hyaline material in the connective tissue and internal organs. Mutations in the CMG2 gene (also known as the ANTXR2 gene) cause the disease. CMG2 encodes a transmembrane protein involved in endothelial development. Hyaline fibromatosis syndrome involves two allelic diseases that have the same phenotype. These are infantile systemic hyalinosis and juvenile hyaline fibromatosis. Common signs of these diseases are pain, joint contractures, skin lesions (thickening of the skin with areas of hyperpigmentation, pearl-sized nodules or papules), subcutaneous nodules on the head, neck, and extremities, gingival hypertrophy, osteopenia, protein-losing enteropathy, increased susceptibility to infectious diseases. Diseases differ in the time of the first clinical signs onset, the severity of the course, and the life expectancy of patients. In the case of infantile systemic hyalinosis, the prognosis is fatal. Hyaline fibromatosis syndrome is an orphan disease that is very difficult to diagnose. There is no pathogenetic treatment for the disease today. Clinical case. We described a case of hyaline fibromatosis syndrome in a boy who was observed and treated at the Municipal Non-Profit Enterprise of Sumy Regional Council "Regional Children's Clinical Hospital" (Ukraine). The diagnosis was made based on medical and genetic analysis. The early manifestation of symptoms and the severe course of the disease forced us to think about infantile systemic hyalinosis in the child. Along with characteristic external phenotypic signs, severe enteropathy with protein loss and persistent infections were observed in the child. As far as we know, this is the first case of the disease diagnosed in Ukraine. This publication aims to draw medical professionals' attention to the diversity of the course of genetic diseases in children. Comprehensive care, timely and symptomatic treatment make it possible to prolong the life of patients.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
CiteScore
0.10
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信