| Research background and purpose:Gout is a systemic metabolic disease caused by the disorder of purine metabolism.The typical clinical manifestation is the acute attack of gouty arthritis caused by the deposition of monosodium urate(MSU)crystals in connective tissue.With the change of diet structure and the improvement of living standards,the prevalence of gout gradually increases and shows a trend of younger age under the combined effects of genetic and environmental factors.In addition,gout is a multi-gene hereditary disease with a certain family aggregation.MSU crystals precipitate out in the surrounding tissues,leading to repeated inflammatory reactions,which further result in destruction of bone,and joint deformity,which seriously have a significant negative impact on the quality of life of the patients.There have been lots of studies on the genetic background and genes of gout,but few studies on the comparative analysis of joint ultrasonography in patients with familial and sporadic primary gout.Therefore,the purpose of this study is to compare the presence and distribution characteristics of gout in kidney stones,bilateral knee joints,ankle joints and first metatarsophalangeal joints of patients with familial and sporadic primary gout by high-frequency ultrasound.Further,the correlation between family history,the presence of kidney stones and ultrasonic features of the two groups is analyzed,and we investigate the factors affecting the formation of tophi in patients with sporadic familial primary gout,and to provide objective basis for clinical prediction of the existence of tophi in patients with family history of gout.Materials and Methods:According to the inclusion and exclusion criteria,patients with primary gout who presented for the first time to the Department of Rheumatology and Immunology,the First Affiliated Hospital of Chengdu Medical College,from November 2020 to June 2022 were enrolled.They were divided into familial gout group and sporadic gout group based on to whether there were one or more individuals with gout in their immediate or collateral relatives within three generations.General clinical data and blood biochemical data of all patients were collected.All patients underwent bilateral renal ultrasonography,high-frequency ultrasonography of bilateral knee joints,ankle joints and first metatarsophalangeal joints(MTP-1).And the presence and distribution of ultrasonic signs of kidney stones,synovial hyperplasia,aggregation,double track sign,tophus and bone erosion were recorded.Combined with relevant clinical data and laboratory examination data of patients in the two groups,the presence and distribution characteristics of ultrasonic signs were compared.Moreover the correlation between the presence of gouty stone and the clinical data and laboratory examination of the two groups was analyzed.Result:A total of 395 patients with primary gout were collected,including 104 patients with familial primary gout and 291 patients with sporadic primary gout.1.The age,body mass index(BMI),duration of disease,serum uric acid(SUA),cystatin C(Cys C),alanine aminotransferase(ALT),C-reactive protein(CRP)and erythrocyte sedimentation rate(ESR)of the patients with familial primary gout were all lower than those with sporadic primary gout.The incidence of bone erosion and tophi in patients with familial primary gout were higher than those in patients with sporadic primary gout,and the difference was statistically significant(P < 0.05).2.Compared with patients with sporadic primary gout,patients with familial primary gout had a higher proportion of involvement in the right first metatarsophalangeal joint.Moreover,more joints were involved in familial gout patients,and the difference was statistically significant(P < 0.05).3.Family history is positively related to bone erosion and the formation of gout in primary gout patients.The area under receiver operating character curve(ROC)of family history combined with age,SUA and duration of disease to predict the presence of gout in primary gout patients was 0.883,P < 0.01.4.Age,course of disease,hypertension,drinking history,SUA,Scr,Cys C,ALT,ESR levels were closely correlated with the presence of tophi in patients with sporadic primary gout.Age,duration of disease,smoking history,bone erosion,SUA and TC are related to the formation of gout in patients with familial primary gout.5.Age,combined with duration of disease and SUA level,predicted the presence of tophi in patients with sporadic primary gout,and the area under ROC curve was 0.870,P < 0.01;Age and SUA level predicted the presence of tophi in patients with familial primary gout with an area under ROC curve of 0.975(P < 0.01).Conclusions:Compared with sporadic primary gout,familial primary gout patients have younger onset age,shorter duration of disease,lower BMI and lower inflammatory indexes.However,the incidence of joint tophi and bone erosion of the familial was higher,MTP-1 was more easily involved and the number of diseased joints involved was higher.In addition,family history is a risk factor in the formation of gout and bone erosion in primary gout patients.More importantly,the likelihood of the presence of tophi is higher in patients with primary gout with family history,higher SUA,older age,and longer course of disease.What’s more,in patients with sporadic primary gout,the older the patient,the longer the course of the disease and the higher the SUA level,the more likely to have tophi,while in patients with familial primary gout,the older the patient and the higher the SUA level. |