1.CGA-guided multidisciplinary intervention for frail non-dialysis elderly patients with chronic kidney disease
Yu'er LIANG ; Jing CHANG ; Yun GAO ; Yanfei WANG ; Qianmei SUN
Chinese Journal of Geriatrics 2025;44(4):490-497
Objective:To investigate the effects of Comprehensive Geriatric Assessment(CGA)-guided multidisciplinary interventions on frail non-dialysis elderly patients with chronic kidney disease, while also assessing the influence of different levels of frailty.Methods:This study is a randomized controlled trial conducted between 2020 and 2021, involving 230 frail, non-dialysis elderly patients with chronic kidney disease stages 3-5, treated at our hospital.Participants were randomly assigned to either an intervention group or a control group using a random number table method, with 115 patients in each group.The intervention group received multidisciplinary treatment over a period of 12 months, while the control group received standard care.We compared Fried frailty scores, re-hospitalization rates, and all-cause mortality between the two groups, and documented changes in CGA both before treatment and 12 months after treatment.Results:After 12 months of treatment, the Fried frail phenotype score was significantly lower in the intervention group(2.7±1.2)compared to the control group(3.6±1.8, t=97.47, P<0.01).Additionally, grip strength in the intervention group was higher(20.6±8.5 kg)than in the control group(13.5±8.1 kg, t=6.57, P<0.01).The scores for the Mini Nutritional Assessment-Short Form(MNA-SF)(10.7±4.0 vs.9.1±4.2, t=29.03, P<0.01), Mini-Mental State Examination Scale(MMSE)(24.3±8.6 vs.19.3±9.6, t=96.35, P<0.01), and Short Physical Performance Battery(SPPB)(6.8±3.2 vs.3.5±2.9, t=71.97, P<0.01)were also significantly higher in the intervention group.Furthermore, the Activity of Daily Living(ADL)score was greater in the intervention group(5.4±1.6)than in the control group(3.9±1.6, t=5.75, P<0.01), as was weight(67.2±11.2 kg vs.64.0±11.8 kg, t=2.02, P=0.045).The frailty reversal rate was significantly higher in the intervention group(32.2% vs.8.0%, χ2=21.4, P<0.01), and the all-cause mortality rate was lower in this group(11.3% vs.22.6%, χ2=5.22, P=0.022).However, there were no significant differences observed in the Geriatric Depression Scale(GDS)(6.3±3.7 vs.6.0±4.3, t=24.29, P>0.05), estimated Glomerular Filtration Rate(eGFR)[(44.1±19.2)ml·(min·1.73m 2) -1vs.(39.8±19.0)ml·(min·1.73m 2) -1, t=1.76, P>0.05], Instrumental Activity of Daily Living(IADL)(5.2±2.2 vs.4.6±2.2, t=1.49, P>0.05), and the rate of readmission(25.2% vs.36.5%, χ2=3.44, P>0.05). Conclusions:Multidisciplinary interventions derived from a comprehensive geriatric assessment can ameliorate or even reverse frailty, reduce all-cause mortality, and enhance the prognosis of frail elderly patients with chronic kidney disease stages 3 to 5 who are not undergoing dialysis.
2.Trajectory of intrinsic capacity and association with daily life ability in people aged 50 years and over in Shanghai
Jiaqi WANG ; Yanfei GUO ; Yan SHI ; Shuangyuan SUN ; Jiamin CAO ; Anli JIANG ; Yujun DONG ; Ye RUAN ; Fan WU
Chinese Journal of Epidemiology 2025;46(7):1209-1216
Objective:To identify the change trajectory of intrinsic capacity in people aged ≥50 years in Shanghai and explore the impact of intrinsic capacity trajectory change on overall function and dalily life activities in this population.Methods:The longitudinal data from round 1 to 3 Study of Global Ageing and Adult Health in Shanghai were used. The total intrinsic ability scores from five dimensions of cognition, psychology, sensory, vitality and locomotion were calculated. The censored normal model of group-based trajectory was used to identify the trajectory of intrinsic capacity change over time. Linear regression model and multivariate logistic regression model were used to analyse the effects of different levels intrinsic capacity trajectory on the scores of the WHO Disability Assessment Schedule (WHODAS), the activity of daily living (ADL) and the instrumental activities of daily living (IADL).Results:A total of 2 302 study participants aged ≥50 years with 3 round complete data were included in this study, and 3 levels of intrinsic capacity trajectory were identified, low-level trajectory (9.3%), medium-level trajectory (41.7%), and high-level trajectory (49.0%). Compared with the high-level group, the medium-level and low-level groups had higher WHODAS scores, which increased by 3.578 (95% CI: 2.028-5.129) and 12.620 (95% CI: 9.951-15.289), respectively, and those with more severe disability and those in the low-level group were at higher risk for severe difficulty in ADLs ( OR=12.450, 95% CI: 4.310-35.966) and IADLs ( OR=5.479, 95% CI: 1.311-22.904). Conclusions:Heterogeneity in trajectory of intrinsic capacity exists in people aged ≥50 years in Shanghai. Middle-aged and elderly people with low initial level and rapid decline trajectory of intrinsic capacity are at greater risk for the decline of daily life ability and the increase of disability. It is necessary to strengthen the long-term dynamic monitoring and evaluation of the change trajectory of intrinsic capacity in this population.
3.Effect and mechanism of neurotrophin-3 ubiquitination via receptor on neurological function recovery after spinal cord injury in rats
Yan CONG ; Zhide SUN ; Yanfei WANG ; Jian YU
Chinese Journal of Emergency Medicine 2025;34(5):676-683
Objective:To investigate the role and underlying mechanisms of neurotrophin-3 (NT-3) in promoting neurological functional recovery following spinal cord injury (SCI) in rats.Methods:In vivo: Fifteen 8-week-old SPF-grade Sprague-Dawley rats were randomly assigned (via a random number method) to three groups ( n=5 per group): sham-operated (Sham) group, SCI group, and SCI+NT-3 group. A spinal cord compression model was established using a clip method. NT-3 (20 μg/kg) was continuously infused into the subarachnoid space via a microinfusion pump for 7 days. The Basso-Beattie-Bresnahan (BBB) scale was used to assess locomotor function post-SCI, with scores below 21 indicating successful model establishment. Western blotting was performed to analyze the expression levels of NT-3, microtubule-associated protein 1 light chain 3B (LC3B), oligodendrocyte transcription factor 1 (Olig1), and myelin basic protein (MBP) at 1, 3, 5, and 7 days post-injury. In vitro: Oligodendrocytes were isolated from neonatal rat brain tissues, cultured (5×10 4/cm 2), and divided into four groups: oxygen-glucose deprivation (OGD) group, OGD+NT-3 group, OGD+NT-3+ubiquitination inhibitor (UCHL1) group, and OGD+NT-3+ubiquitination agonist (MG132) group. Western blotting was conducted to detect the expression levels of TrkC, Ub-TrkC, and LC3B in each experimental group. Immunofluorescence staining was utilized to observe LC3B aggregation in oligodendrocytes. Morphological alterations in cells were examined through microscopy. Statistical analysis was performed using one-way ANOVA, followed by pairwise comparisons using the least significant difference method. Results:Compared with the SCI group, the SCI+NT-3 group exhibited significant improvement in BBB scores, reduced autophagy levels, increased Olig1 and MBP expression, and elevated TRAF6 ubiquitin ligase expression (all P<0.05). At 5 h post-OGD, immunofluorescence revealed reduced LC3B aggregation and near-normal oligodendrocyte morphology in the OGD+NT-3 group. Compared to the OGD, OGD+NT-3, and OGD+NT-3+UCHL1 groups, the OGD+NT-3+MG132 group demonstrated increased Ub-TrkC expression and markedly reduced autophagy levels at 5-7 h (all P<0.05). The OGD+NT-3+UCHL1 group exhibited lower Ub-TrkC expression and elevated autophagy levels compared to the OGD+NT-3 group (all P<0.05). Conclusion:NT-3 inhibits oligodendrocyte autophagy through TrkC receptor ubiquitination, thereby maintaining oligodendrocyte survival and promoting neurological recovery after SCI in rats.
4.Structural content and psychometric properties of fundamental movement skills assessment scales for school-age children based on ICF-CY:a systematic review
Haoqi ZHANG ; Hua LIU ; Pu SUN ; Yanfei WEN ; Jiyue ZHANG ; Lu YANG
Chinese Journal of Rehabilitation Theory and Practice 2025;31(10):1172-1180
Objective To rexplore the content structure characteristics and psychometric properties of assessment scales for funda-mental movement skills(FMS)in school-aged children,based on International Classification of Functioning,Dis-ability and Health-Children and Youth Version(ICF-CY)framework.Methods Literatures on assessment scales for FMS in school-aged children were retrieved from PubMed,Science Di-rect,Web of Science,EMBase,PsycINFO,CNKI and Wanfang data from inception to July,2025.The contents of the included scales were analyzed using the ICF-CY linking rule.The COSMIN RoB tool was used to assess the psychometric properties of the scales,and the GRADE system was applied to evaluate the overall quality of evi-dence.Results A total of 29 studies were included,involving six assessment scales:Bruininks-Oseretsky Test of Motor Profi-ciency-2(BOT-2),Canadian Assessment of Movement Skill and Agility(CAMSA),K?rperkoordinationstest für Kinder(KTK),Movement Assessment Battery for Children-2(MABC-2),Motorische Basiskompetenzen test Battery(MOBAK),and Test of Gross Motor Development-3(TGMD-3).In the ICF-CY linking analysis,all six tools addressed joint mobility functions(b710)and joint stability functions(b715),while five of them also in-volved hand and arm use(d445).The number of linked items ranged from 5 to 11.BOT-2 and TGMD-3 linked to 11 items,showing broad coverage;BOT-2 focused more on the body function dimension,whereas TGMD-3 em-phasized activity and participation dimensions,especially the performance of hand function in daily activities.In bias risk assessment,TGMD-3 showed the lowest risk(50%rated A and 50%rated B),while MABC-2 had the highest proportion of C ratings(55.6%),followed by BOT-2(33.3%).In evidence grading,TGMD-3 was rated high quality,KTK moderate,BOT-2 and CAMSA low,and MABC-2 and MOBAK very low.Conclusion TGMD-3 is recommended as the primary tool for assessing FMS in school-aged children for broad coverage of ICF-CY items,strong psychometric properties and high evidence quality.KTK,with moderate evidence quali-ty,may serve as a secondary option,but should be used cautiously in China.Although CAMSA is easy to admin-ister,its validity and reliability are low,so it is only suitable for rapid classroom screening.BOT-2,despite cover-ing more ICF-CY items,has a higher bias risk and low evidence quality.MOBAK and MABC-2 have very low evidence quality and are not recommended for current use.
5.Chinese version of the Attitude Tool of Delirium Scale and its reliability and validity test
Yanfei SUN ; Mengxin XUE ; Sijiao HU ; Chengcheng FU ; Wenli JIANG ; Mengyao CAO ; Huajuan HOU
Chinese Journal of Practical Nursing 2025;41(3):191-197
Objective:To translate the English version of the Attitude Tool of Delirium (ATOD) into Chinese and test the reliability and validity of its application in Chinese nurses, and to provide an assessment tool for assessing nurses ′ attitudes towards delirium patients. Methods:After obtaining authorization from the source scale developer, the English version of the ATOD scale was translated, back-translated, expert-consulte, pre-surveyed and cross-culturally adapted according to the Brislin translation model. A questionnaire survey was conducted among 298 nurses with experience in caring for patients with delirium in three tertiary hospitals in Jiangsu Province using a convenience sampling method. The critical ratio value and correlation coefficient were used to analyze the scale items. Exploratory factor analysis was used to evaluate the structural validity of the scale, and experts were invited to evaluate the content validity of the scale. Cronbach α coefficient and test-retest reliability were used to evaluate the reliability of the scale. Results:The Chinese version of the ATOD scale contains 3 dimensions of cognitive attitudes, behavioral attitudes, and emotional attitudes toward patients with delirium, with a total of 23 entries. The Cronbach α coefficient for the entire scale was 0.896, with each dimension′s Cronbach α coefficient ranging from 0.614 to 0.912. The retest reliability of the scale was 0.868, with each dimension ′s retest reliability ranging from 0.603 to 0.927. Exploratory factor analysis extracted three eigenvalues with common factors greater than 1, and the cumulative variance contribution rate was 63.812%. Conclusions:The Chinese version of the ATOD scale has good reliability and validity, and can be used as an evaluation tool for evaluating nurses ′ attitudes towards delirium patients in China, so as to provide an effective basis for the formulation of corresponding interventions.
6.Trajectory of intrinsic capacity and association with daily life ability in people aged 50 years and over in Shanghai
Jiaqi WANG ; Yanfei GUO ; Yan SHI ; Shuangyuan SUN ; Jiamin CAO ; Anli JIANG ; Yujun DONG ; Ye RUAN ; Fan WU
Chinese Journal of Epidemiology 2025;46(7):1209-1216
Objective:To identify the change trajectory of intrinsic capacity in people aged ≥50 years in Shanghai and explore the impact of intrinsic capacity trajectory change on overall function and dalily life activities in this population.Methods:The longitudinal data from round 1 to 3 Study of Global Ageing and Adult Health in Shanghai were used. The total intrinsic ability scores from five dimensions of cognition, psychology, sensory, vitality and locomotion were calculated. The censored normal model of group-based trajectory was used to identify the trajectory of intrinsic capacity change over time. Linear regression model and multivariate logistic regression model were used to analyse the effects of different levels intrinsic capacity trajectory on the scores of the WHO Disability Assessment Schedule (WHODAS), the activity of daily living (ADL) and the instrumental activities of daily living (IADL).Results:A total of 2 302 study participants aged ≥50 years with 3 round complete data were included in this study, and 3 levels of intrinsic capacity trajectory were identified, low-level trajectory (9.3%), medium-level trajectory (41.7%), and high-level trajectory (49.0%). Compared with the high-level group, the medium-level and low-level groups had higher WHODAS scores, which increased by 3.578 (95% CI: 2.028-5.129) and 12.620 (95% CI: 9.951-15.289), respectively, and those with more severe disability and those in the low-level group were at higher risk for severe difficulty in ADLs ( OR=12.450, 95% CI: 4.310-35.966) and IADLs ( OR=5.479, 95% CI: 1.311-22.904). Conclusions:Heterogeneity in trajectory of intrinsic capacity exists in people aged ≥50 years in Shanghai. Middle-aged and elderly people with low initial level and rapid decline trajectory of intrinsic capacity are at greater risk for the decline of daily life ability and the increase of disability. It is necessary to strengthen the long-term dynamic monitoring and evaluation of the change trajectory of intrinsic capacity in this population.
7.Structural content and psychometric properties of fundamental movement skills assessment scales for school-age children based on ICF-CY:a systematic review
Haoqi ZHANG ; Hua LIU ; Pu SUN ; Yanfei WEN ; Jiyue ZHANG ; Lu YANG
Chinese Journal of Rehabilitation Theory and Practice 2025;31(10):1172-1180
Objective To rexplore the content structure characteristics and psychometric properties of assessment scales for funda-mental movement skills(FMS)in school-aged children,based on International Classification of Functioning,Dis-ability and Health-Children and Youth Version(ICF-CY)framework.Methods Literatures on assessment scales for FMS in school-aged children were retrieved from PubMed,Science Di-rect,Web of Science,EMBase,PsycINFO,CNKI and Wanfang data from inception to July,2025.The contents of the included scales were analyzed using the ICF-CY linking rule.The COSMIN RoB tool was used to assess the psychometric properties of the scales,and the GRADE system was applied to evaluate the overall quality of evi-dence.Results A total of 29 studies were included,involving six assessment scales:Bruininks-Oseretsky Test of Motor Profi-ciency-2(BOT-2),Canadian Assessment of Movement Skill and Agility(CAMSA),K?rperkoordinationstest für Kinder(KTK),Movement Assessment Battery for Children-2(MABC-2),Motorische Basiskompetenzen test Battery(MOBAK),and Test of Gross Motor Development-3(TGMD-3).In the ICF-CY linking analysis,all six tools addressed joint mobility functions(b710)and joint stability functions(b715),while five of them also in-volved hand and arm use(d445).The number of linked items ranged from 5 to 11.BOT-2 and TGMD-3 linked to 11 items,showing broad coverage;BOT-2 focused more on the body function dimension,whereas TGMD-3 em-phasized activity and participation dimensions,especially the performance of hand function in daily activities.In bias risk assessment,TGMD-3 showed the lowest risk(50%rated A and 50%rated B),while MABC-2 had the highest proportion of C ratings(55.6%),followed by BOT-2(33.3%).In evidence grading,TGMD-3 was rated high quality,KTK moderate,BOT-2 and CAMSA low,and MABC-2 and MOBAK very low.Conclusion TGMD-3 is recommended as the primary tool for assessing FMS in school-aged children for broad coverage of ICF-CY items,strong psychometric properties and high evidence quality.KTK,with moderate evidence quali-ty,may serve as a secondary option,but should be used cautiously in China.Although CAMSA is easy to admin-ister,its validity and reliability are low,so it is only suitable for rapid classroom screening.BOT-2,despite cover-ing more ICF-CY items,has a higher bias risk and low evidence quality.MOBAK and MABC-2 have very low evidence quality and are not recommended for current use.
8.Chinese version of the Attitude Tool of Delirium Scale and its reliability and validity test
Yanfei SUN ; Mengxin XUE ; Sijiao HU ; Chengcheng FU ; Wenli JIANG ; Mengyao CAO ; Huajuan HOU
Chinese Journal of Practical Nursing 2025;41(3):191-197
Objective:To translate the English version of the Attitude Tool of Delirium (ATOD) into Chinese and test the reliability and validity of its application in Chinese nurses, and to provide an assessment tool for assessing nurses ′ attitudes towards delirium patients. Methods:After obtaining authorization from the source scale developer, the English version of the ATOD scale was translated, back-translated, expert-consulte, pre-surveyed and cross-culturally adapted according to the Brislin translation model. A questionnaire survey was conducted among 298 nurses with experience in caring for patients with delirium in three tertiary hospitals in Jiangsu Province using a convenience sampling method. The critical ratio value and correlation coefficient were used to analyze the scale items. Exploratory factor analysis was used to evaluate the structural validity of the scale, and experts were invited to evaluate the content validity of the scale. Cronbach α coefficient and test-retest reliability were used to evaluate the reliability of the scale. Results:The Chinese version of the ATOD scale contains 3 dimensions of cognitive attitudes, behavioral attitudes, and emotional attitudes toward patients with delirium, with a total of 23 entries. The Cronbach α coefficient for the entire scale was 0.896, with each dimension′s Cronbach α coefficient ranging from 0.614 to 0.912. The retest reliability of the scale was 0.868, with each dimension ′s retest reliability ranging from 0.603 to 0.927. Exploratory factor analysis extracted three eigenvalues with common factors greater than 1, and the cumulative variance contribution rate was 63.812%. Conclusions:The Chinese version of the ATOD scale has good reliability and validity, and can be used as an evaluation tool for evaluating nurses ′ attitudes towards delirium patients in China, so as to provide an effective basis for the formulation of corresponding interventions.
9.CGA-guided multidisciplinary intervention for frail non-dialysis elderly patients with chronic kidney disease
Yu'er LIANG ; Jing CHANG ; Yun GAO ; Yanfei WANG ; Qianmei SUN
Chinese Journal of Geriatrics 2025;44(4):490-497
Objective:To investigate the effects of Comprehensive Geriatric Assessment(CGA)-guided multidisciplinary interventions on frail non-dialysis elderly patients with chronic kidney disease, while also assessing the influence of different levels of frailty.Methods:This study is a randomized controlled trial conducted between 2020 and 2021, involving 230 frail, non-dialysis elderly patients with chronic kidney disease stages 3-5, treated at our hospital.Participants were randomly assigned to either an intervention group or a control group using a random number table method, with 115 patients in each group.The intervention group received multidisciplinary treatment over a period of 12 months, while the control group received standard care.We compared Fried frailty scores, re-hospitalization rates, and all-cause mortality between the two groups, and documented changes in CGA both before treatment and 12 months after treatment.Results:After 12 months of treatment, the Fried frail phenotype score was significantly lower in the intervention group(2.7±1.2)compared to the control group(3.6±1.8, t=97.47, P<0.01).Additionally, grip strength in the intervention group was higher(20.6±8.5 kg)than in the control group(13.5±8.1 kg, t=6.57, P<0.01).The scores for the Mini Nutritional Assessment-Short Form(MNA-SF)(10.7±4.0 vs.9.1±4.2, t=29.03, P<0.01), Mini-Mental State Examination Scale(MMSE)(24.3±8.6 vs.19.3±9.6, t=96.35, P<0.01), and Short Physical Performance Battery(SPPB)(6.8±3.2 vs.3.5±2.9, t=71.97, P<0.01)were also significantly higher in the intervention group.Furthermore, the Activity of Daily Living(ADL)score was greater in the intervention group(5.4±1.6)than in the control group(3.9±1.6, t=5.75, P<0.01), as was weight(67.2±11.2 kg vs.64.0±11.8 kg, t=2.02, P=0.045).The frailty reversal rate was significantly higher in the intervention group(32.2% vs.8.0%, χ2=21.4, P<0.01), and the all-cause mortality rate was lower in this group(11.3% vs.22.6%, χ2=5.22, P=0.022).However, there were no significant differences observed in the Geriatric Depression Scale(GDS)(6.3±3.7 vs.6.0±4.3, t=24.29, P>0.05), estimated Glomerular Filtration Rate(eGFR)[(44.1±19.2)ml·(min·1.73m 2) -1vs.(39.8±19.0)ml·(min·1.73m 2) -1, t=1.76, P>0.05], Instrumental Activity of Daily Living(IADL)(5.2±2.2 vs.4.6±2.2, t=1.49, P>0.05), and the rate of readmission(25.2% vs.36.5%, χ2=3.44, P>0.05). Conclusions:Multidisciplinary interventions derived from a comprehensive geriatric assessment can ameliorate or even reverse frailty, reduce all-cause mortality, and enhance the prognosis of frail elderly patients with chronic kidney disease stages 3 to 5 who are not undergoing dialysis.
10.Clinical features of hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma: a multi-center real-world retrospective study
Yunze XU ; Wen KONG ; Ming CAO ; Guangxi SUN ; Jinge ZHAO ; Songyang LIU ; Zhiling ZHANG ; Liru HE ; Xiaoqun YANG ; Haizhou ZHANG ; Lieyu XU ; Yanfei YU ; Hang WANG ; Honggang QI ; Tianyuan XU ; Bo YANG ; Yichu YUAN ; Dongning CHEN ; Dengqiang LIN ; Fangjian ZHOU ; Qiang WEI ; Wei XUE ; Xin MA ; Pei DONG ; Hao ZENG ; Jin ZHANG
Chinese Journal of Urology 2024;45(3):161-167
Objective:To investigate the clinical features and therapeutic efficacy of patients with hereditary leiomyomatosis and renal cell carcinoma(RCC) syndrome-associated RCC (HLRCC-RCC) in China.Methods:The clinical data of 119 HLRCC-RCC patients with fumarate hydratase (FH) germline mutation confirmed by genetic diagnosis from 15 medical centers nationwide from January 2008 to December 2021 were retrospectively analyzed. Among them, 73 were male and 46 were female. The median age was 38(13, 74) years. The median tumor diameter was 6.5 (1.0, 20.5) cm. There were 38 cases (31.9%) in stage Ⅰ-Ⅱand 81 cases (68.1%) in stage Ⅲ-Ⅳ. In this group, only 11 of 119 HLRCC-RCC patients presented with skin smooth muscle tumors, and 44 of 46 female HLRCC-RCC patients had a history of uterine fibroids. The pathological characteristics, treatment methods, prognosis and survival of the patients were summarized.Results:A total of 86 patients underwent surgical treatment, including 70 cases of radical nephrectomy, 5 cases of partial nephrectomy, and 11 cases of reductive nephrectomy. The other 33 patients with newly diagnosed metastasis underwent renal puncture biopsy. The results of genetic testing showed that 94 patients had FH gene point mutation, 18 had FH gene insertion/deletion mutation, 4 had FH gene splicing mutation, 2 had FH gene large fragment deletion and 1 had FH gene copy number mutation. Immunohistochemical staining showed strong 2-succinocysteine (2-SC) positive and FH negative in 113 patients. A total of 102 patients received systematic treatment, including 44 newly diagnosed patients with metastasis and 58 patients with postoperative metastasis. Among them, 33 patients were treated with tyrosine kinase inhibitor (TKI) combined with immune checkpoint inhibitor (ICI), 8 patients were treated with bevacizumab combined with erlotinib, and 61 patients were treated with TKI monotherapy. Survival analysis showed that the median progression-free survival (PFS) of TKI combined with ICI was 18 (5, 38) months, and the median overall survival (OS) was not reached. The median PFS and OS were 12 (5, 14) months and 30 (10, 32) months in the bevacizumab combined with erlotinib treatment group, respectively. The median PFS and OS were 10 (3, 64) months and 44 (10, 74) months in the TKI monotherapy group, respectively. PFS ( P=0.009) and OS ( P=0.006) in TKI combined with ICI group were better than those in bevacizumab combined with erlotinib group. The median PFS ( P=0.003) and median OS ( P=0.028) in TKI combined with ICI group were better than those in TKI monotherapy group. Conclusions:HLRCC-RCC is rare but has a high degree of malignancy, poor prognosis and familial genetic characteristics. Immunohistochemical staining with strong positive 2-SC and negative FH can provide an important basis for clinical diagnosis. Genetic detection of FH gene germ line mutation can confirm the diagnosis. The preliminary study results confirmed that TKI combined with ICI had a good clinical effect, but it needs to be confirmed by the results of a large sample multi-center randomized controlled clinical study.

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