中药“肾九方加味”方案治疗FAT1基因突变引发的肾小球囊肿病:1例报告  

Traditional Chinese medicine“Shen Jiu Fang Modified”approach in treating glomerular cystic disease induced by FAT1 gene mutation:one case report

作　　者：李慧洁 张涤 钟逸斐[1] 邓跃毅[1] 葛文姝[1] LI Hui-jie;ZHANG Di;ZHONG Yi-fei;DENG Yue-yi;GE Wen-shu(Department of Nephrology,Longhua Hospital,Shanghai University of Traditional Chinese Medicine,Shanghai 200032,China)

机构地区：[1]上海中医药大学附属龙华医院肾病科,上海200032

出　　处：《复旦学报（医学版）》2024年第3期420-425,434,共7页Fudan University Journal of Medical Sciences

基　　金：上海市临床重点专科建设项目(shslczdzk04201);国家重点研发计划(2019YFC1709403);上海申康医院发展中心促进市级医院临床技能与临床创新三年行动计划(2022-2024年)医企融合创新成果转化专项(SHDC2022CRD003)。

摘　　要：肾小球囊肿病(glomerulocystic kidney disease,GCKD)是一种罕见的肾囊肿性疾病。FAT1基因编码一种具备多重生物学功能的单跨膜蛋白,含27个外显子。该蛋白胞外部分主要由钙黏蛋白重复序列、5个表皮细胞生长因子样结构域和1个G层粘连蛋白样结构域组成。本文报告了1例由FAT1基因突变引起的肾小球囊肿病例,采用“肾九方加味”中医方案进行治疗。该方案包含生黄芪、苍术、白术、全当归、半枝莲、白僵蚕、蛇舌草、芙蓉叶等药材,旨在健脾化湿和补肾活血。本病例展示了中医治疗方法在解决罕见肾病方面的应用潜力,为类似疑难病例的诊疗提供了新的思路。Glomerulocystic kidney disease(GCKD),a rare nephrocystic disorder,was the focus of this study.The FAT1 gene,comprising 27 exons,encoded a single-pass transmembrane protein with multiple biological functions.The extracellular portion of this protein consisted of 33 cadherin repeat sequences,5 epidermal growth factor-like domains,and a G-layer associated domain.This report detailed a case of glomerular cystic disease caused by a mutation in the FAT1 gene,which was treated with the traditional Chinese medicine formula‘Shen Jiu Fang Modified’.This formula included Astragalus,Atractylodes,Poria,Angelica,Clematis,Silkworm,Hedyotis diffusa,Hibiscus leaf,among other ingredients,and aimed to invigorate the spleen and promote diuresis,as well as to nourish the kidneys and promote blood circulation.This case demonstrated the potential of traditional Chinese medicine in addressing rare kidney diseases,offering new insights for the diagnosis and treatment of similar complex cases.

关 键 词：肾小球囊肿病(GCKD) 肾九方 FAT1 基因突变 中医药治疗 

分 类 号：R249[医药卫生—中医临床基础]