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1例具有肾病家族史疑似Alport综合征的诊疗思路探讨

Diagnostic and therapeutic considerations in a suspected Alport syndrome case with familial nephropathy
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摘要 回顾性分析1例慢性肾脏病4期,但其临床表现疑似Alport综合征(AS)的病案,其具有特征性慢性肾脏病家族史临床资料。临床表现为肾功能下降、耳鸣,神经性耳聋,但未见明显血尿或蛋白尿。值得注意的是,该患者具有感音神经性耳聋家族史,其肾病家族系谱提示可疑常染色体隐性遗传。经过中西医结合治疗后,肾功能相关指标较前好转。因此,本文基于详细的病史采集、综合分析及鉴别诊断,对该病例展开探讨。该案例凸显了在精准医学时代,传统的临床资料采集、详细的家族史追溯和严密的逻辑推理,在面对罕见病诊断困境时,依然是不可或缺的关键环节。同时,本文也初步探讨益肾泄浊法延缓AS引起的慢性肾衰竭的可能性,以期为中医治疗AS提供新思路。 This retrospective study examines a stage 4 chronic kidney disease(CKD)presenting clinical manifestations indicative of Alport syndrome(AS).The patient demonstrated impaired renal function,sensorineural hearing loss,and tinnitus,without significant hematuria or proteinuria.A notable family history of sensorineural deafness and CKD was observed,suggesting probable autosomal recessive inheritance.After receiving integrated traditional Chinese and Western medicine therapy,the patient's renal function indices showed marked improvement.Therefore,this study examines a specific case through detailed medical history collection,comprehensive analysis,and differential diagnosis.It highlights that in the era of precision medicine,traditional methods of traditional clinical date collection,detailed familial desease tracing and close logical reasoning remain essential in diagnosing rare diseases.Additionally,this case indicates the therapeutic potential of traditional Chinese medicine's"Yi Shen Xie Zhuo"therapy for retarding renal progression in AS,offering new perspectives for TCM-based treatment.
作者 杨雯尹 倪杰 许陵冬 孙伟 赵静 YANG Wenyin;NI Jie;XU Lingdong;SUN Wei;ZHAO Jing(Affiliated Hospital of Nanjing University of Chinese Medicine,Nanjing 210029,China)
出处 《四川中医》 2025年第11期146-154,共9页 Journal of Sichuan of Traditional Chinese Medicine
基金 江苏省干部保健科研立项项目(BJ23011) 江苏省中医药科技发展计划重点项目(ZD202209) 江苏省中医院创新发展基金项目(Y2023CX05)。
关键词 ALPORT综合征 家族性肾病 病例报告 诊疗思路 Alport syndrome Familial nephropathy Case report Diagnostic and therapeutic approach
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