| 唐艳雅,罗笑容,杨京华.毛发 -肝-肠综合征 Ⅰ型 1例[J].安徽医药,2023,27(7):1372-1376. |
| 毛发 -肝-肠综合征 Ⅰ型 1例 |
| Tricho-hepato-enteric syndrome type Ⅰ: a case report |
| |
| DOI：10.3969/j.issn.1009-6469.2023.07.022 |
| 中文关键词: 毛发 -肝-肠综合征 外显子组 基因检测 病例报告 中西医结合 基因疾病 扶正固本 |
| 英文关键词: Tricho-hepato-enteric syndrome Exome Genetic testing Case reports Integrated traditional chinese and western medicine Genetic disease Fuzheng Guben |
| 基金项目:国家中医药管理局项目罗笑容全国名老中医药传承工作室( 14GG2X02) |
| 作者 | 单位 | E-mail | | 唐艳雅 | 广州中医药大学第二临床医学院,广东广州 510006 | | | 罗笑容 | 广东省中医院,儿科,广东广州 510000
广东省中医院,罗笑容名医工作室,广东广州 510000 | | | 杨京华 | 广东省中医院,儿科,广东广州 510000
广东省中医院,罗笑容名医工作室,广东广州 510000
广东省中医院,吕英名医工作室,广东广州 510000 | doumiaomama@126.com |
|
| 摘要点击次数: 3192 |
| 全文下载次数: 982 |
| 中文摘要: |
| 目的提高对毛发 -肝-肠综合征( tricho-hepato-enteric syndrome，THES)临床特点、发病机制以及诊治方面的认识。方法 2021年 11月 29日广东省中医院收治 1例毛发 -肝-肠综合征 Ⅰ型病儿，并进行相关的文献复习。结果诊断方面，予全外显子组测序以明确。治疗上，以免疫治疗、营养支持、抗感染和中医中药等对症治疗为主。治疗后，该病儿腹泻、腹胀减轻，表现为间断性腹泻，大便稀烂，偶成糊状，肠内营养补充日渐增加，肠外营养的摄入量逐步减少，感染控制，全身皮肤及巩膜无黄染，无咳嗽，体质量略有增长，家长要求出院。结论该病的确诊主要依靠基因检测，治疗以免疫治疗和营养支持为主。此外，结合中医药“扶正固本”可以为本病探索新的治疗方法。 |
| 英文摘要: |
| Objective To improve the understanding of clinical features, pathogenesis, diagnosis and treatment of Tricho-hepato-enteric syndrome (THES).Methods A case of THES type I in Guangdong Hospital of Traditional Chinese Medicine on November 29,2021 was reported, and the relevant literature was reviewed.Results In terms of diagnosis, Whole Exome Sequencing had been usedto clarify. In terms of treatment, immunotherapy, nutritional support, anti-infection and symptomatic treatment of traditional Chinese medicine were given priority. After treatment, the child′s diarrhea and abdominal distension were reduced, manifested as intermittentdiarrhea, scattered stool, occasionally into paste. Besides, enteral nutrition supplement increased, and parenteral nutrition intake gradually reduced, and infection was controlled. The whole body skin and sclera was normal, no cough, with slight increasing in weight.Therefore, parents requested discharge.Conclusion At present, the diagnosis of the disease mainly depends on gene diagnosis, andthe clinical treatment is mainly immunotherapy and nutritional support. Furthermore, combined with the theory of traditional Chinesemedicine "Fuzheng Guben" can explore a new treatment for this disease. |
|
查看全文
查看/发表评论 下载PDF阅读器 |
| 关闭 |
|
|
|
