| 李瑞,蔡剑飞,刘小菊,潘铨.针药结合治疗法布雷病致心肾损害伴周围神经痛1例[J].浙江中西医结合杂志,2024,34(10): |
| 针药结合治疗法布雷病致心肾损害伴周围神经痛1例 |
| A Case Study of Combining Acupuncture and Medicine for Treating Heart and Kidney Damage Caused by Fabrys Disease with Peripheral Neuralgia.Rui Li1 Jianfei Cai2 Xiaoju Liu3 Quan Pan1[▲] |
| 投稿时间：2024-04-01 修订日期：2024-09-24 |
| DOI： |
| 中文关键词: 畲药 针药结合 法布雷病 心肾损害 周围神经痛 痰瘀互结 |
| 英文关键词:She Medicine Combination of acupuncture and medicine Fabrys Disease Heart and Kidney Damage Peripheral Neuralgia Phlegm Stasis Syndrome |
| 基金项目:全国中医药创新骨干人才培养项目(国中医药人教函〔2019〕128号)；浙江省中医药科技计划项目(2019ZA131)；丽水市医学重点学科建设项目(3601017) |
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| 中文摘要: |
| 法布雷病(Fabry Disease,FD)作为较为罕见的遗传代谢性疾病,是由X染色体GLA基因突变导致α半乳糖苷酶 A(α-Gal A)活性降低或完全缺乏,造成其代谢底物在外周、中枢神经、肾脏及心脏等部位贮积而发病,早期多以周围神经系统如神经性疼痛为表现,晚期则出现肾脏、心脏及脑部等病变,目前主要以基因检测为主要诊断手段。中医病名中尚无法布雷病名,罕有中医药治疗诊案,但从其病发症状可归纳其证候,因法布雷病发病机理由于代谢底物沉积使各组织器官受累,同畲医药理论中的“疳积病”范畴有其相似之处,考虑其病机多为先天禀赋不足,后天失养,痰热瘀毒等病理产物积聚脏腑、经络以致发病。根据患者发病体质、标实产物、积聚部位不同,同病仍需异治。本案例描述1例法布雷病致心肾损害伴周围神经痛患者的中医诊疗过程,通过结合畲医药和针灸治疗,临床效果较好,故期望为法布雷病的治疗提供一定的临床思路。 |
| 英文摘要: |
| Fabry Disease (FD), as a rare genetic metabolic disease, is caused by mutations in the GLA gene on the X chromosome, leading to a decrease in the activity of α-galactosidase A (α-Gal A) or a complete lack of the enzyme, resulting in its metabolism in the periphery, the central nervous system, the kidneys, and the heart and other parts of the storage and the development of the disease, the early stage of most of the peripheral nervous system, such as neuropathic pain, and the late stage, then In the early stage, it mostly manifests itself in the peripheral nervous system such as neuropathic pain, and in the late stage, it develops lesions in the kidney, heart and brain, etc. Currently, genetic testing is the main diagnostic tool. There is no name for Fabry disease in traditional Chinese medicine, and there are few cases of traditional Chinese medicine treatment. However, its symptoms can be summarized based on its syndrome. The pathogenesis of Fabry disease is due to the deposition of metabolic substrates, which affects various tissues and organs. It has similarities with the "infantile malnutrition" category in traditional Chinese medicine theory. Considering that its pathogenesis is mostly due to insufficient innate endowment and subsequent malnutrition, the accumulation of pathological products such as phlegm-heat, blood stasis, and toxin in the organs and meridians leads to disease. Based on the different physical conditions, symptoms, products, and accumulated locations of patients, different treatments are required for the same disease. This case described the TCM diagnosis and treatment process of a patient with heart and kidney damage caused by Fabry disease with peripheral neuralgia. By combining she medicine and acupuncture treatment, the clinical effect is better, so it is expected to provide some clinical ideas for the treatment of Fabry disease. |
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