Study Of Rapamycin Target Protein MTOR In The Treatment Of TSC-RAML

Objectives: To summarize the clinical diagnosis of patients with tuberous sclerosis complicated with renal hamartoma(TSC-RAML),establish a complete clinical pathway,and strengthen the application of genetic testing in the diagnosis of TSC-RAML,while inhibiting by Everolomus(everolomus,mTOR)In the clinical application of the efficacy,further analysis of the mechanism of action of the drug.Methods: Retrospective analysis of the clinical data and diagnosis and treatment experience of 20 patients with TSC-RAML admitted to the Department of Urology,Lanzhou First Hospital and Zhejiang University First Affiliated Hospital from January2014 to January 2019,combined with the literature on the pathogenesis of TSC-RAML,Review the diagnosis and treatment progress.Applying Everolomus to the treatment of this disease,according to the comparison of the degree of tumor progression in the clinical control,further clarify the status of Everolomus in the treatment of TSC-RAML.Results: Twenty patients except one pregnant female patient,one with double RAML rupture and hemorrhagic anemia were observed and awaiting treatment.The remaining 15 patients were treated with surgery.Six patients with bilateral multiple tumors continued to receive perolomus after surgery.Patients with orphaned kidneys were treated with everolomus,and 2 patients with renal rupture were given conservative treatment with everolomus.After 2 to 44 months of follow-up,9 patients who did not continue to receive everolomus after surgery had different degrees of recurrence and residual tumor enlargement;1 patient died;8 patients(including orphan patients)were treated with perolomus.Increased,1 case of tumor increased earlier;1 case of tumor growth.Conclusions:TSC-RAML is relatively rare in clinical practice.When clinical diagnosis cannot be diagnosed,genetic testing should be used as soon as possible to confirm the diagnosis.At the same time,multidisciplinary consultation system should be strengthened to avoid misdiagnosis and missed diagnosis.After the diagnosis is clear,individualized treatment plan should be formulated according to the patient'scondition.The general principle is to maximize the retention of nephron,relieve clinical symptoms,prevent and treat hamartoma rupture and prolong survival.