The tubeless percutaneous nephrolithotomy (PCNL) is highly favored by endourological urologists for its advantages in patient experience and length of hospital stay. However, there is currently no guideline or consensus that precisely describes tubeless PCNL. This study explores tubeless PCNL from two aspects: patient selection and technical improvements. Clinical data of 40 cases of conventional PCNL and tubeless PCNL patients operated by the same surgeon between December 2023 and April 2024 were analyzed. The changes in the preoperative and postoperative renal function, hemoglobin and inflammatory markers were evaluated, and the operative time, pain scores, and length of hospital stay were also included. Both groups of patients achieved complete stone clearance (100%). Compared to the conventional PCNL group, the tubeless PCNL group had lower pain scores (P < 0.001) and shorter hospital stays (P = 0.005). There were no statistically significant differences between the two groups in terms of operative time (P = 0.83), renal functional impact (P = 0.699), hemoglobin reduction (P = 0.93), and changes in inflammatory markers (P > 0.05). Tubeless PCNL demonstrated better patient experience and shorter hospital stays. Tubeless PCNL patients were strictly selected according to our criteria and operated based on traditional experience and the improved technical standards in this study. Tubeless PCNL is safe and feasible under these conditions. Retrospectively registered: 0620, August, 2024.

BackgroundCurrently, there is limited research on the specific relationship between N, N-diethyl-m-toluamide (DEET) exposure and the odds of kidney stones. We aimed to investigate the relationship between DEET exposure and the prevalence of kidney stones.MethodsWe included 7,567 qualified participants in our research from the 2007–2016 NHANES survey. We carried out three logistic regression models to explore the potential association between DEET exposure and the odds of kidney stones. Spline smoothing with generalized additive models (GAM) was utilized to assess the non-linear relationship and restricted cubic spline (RCS) curves was to determine the dose–response association. Multivariate regression models were used to conduct stratified analysis and sensitivity analysis.ResultsBaseline characteristics of study participants presented the distribution of covariables. Regression analysis revealed that the odds of kidney stones were positively associated with the main metabolites of 3-diethyl-carbamoyl benzoic acid (DCBA) (log2) (OR = 1.05, 95% CI 1.02 to 1.08). The fourth quartile of urine DCBA showed a greater risk of kidney stones in the fully adjusted model (OR = 1.36, 95% CI 1.08 to 1.72). Another DEET metabolite of N, N-diethyl-3-hydroxymethylbenzamide (DHMB) was used to confirm the accuracy and stability of the results. The spline smoothing curve represented two main DEET metabolites had similar no-linear relationships and a positive trend with kidney stones proportion. RCS implied that the incidence of kidney stones rose with increasing levels of DEET exposure. High-risk groups on kidney stones were exhibited by stratified analysis under DEET exposure.ConclusionOur study suggests that DEET exposure is positively associated with odds of kidney stones. Further investigation into the underlying processes of this association is required to guide the prevention and treatment of kidney stones.

Alternative polyadenylation (APA) is an important post-transcriptional regulatory mechanism in cancer development and progression. Poly(A) binding protein nuclear 1 (PABPN1) is a gene that encodes abundant nuclear protein, binds with high affinity to nascent poly(A) tails, and is crucial for 3'-UTR (3'-untranslated region) APA. Although PABPN1 has been recently reported as a dominant master APA regulator in clear cell renal cell carcinoma (ccRCC), the underlying functional mechanism remain unclear and the genes subject to PABPN1 regulation that contribute to ccRCC progression have not been identified. Here, we found that PABPN1 is upregulated in ccRCC, and its expression is highly associated with the clinical prognosis of ccRCC patients. PABPN1 promotes ccRCC cell proliferation, migration, invasion, and exerts an influence on sphingolipid metabolism and cell cycle. Moreover, PABPN1 depletion significantly suppressed cancer cell growth via induction of cell cycle arrest and apoptosis. In particular, we characterized PABPN1-regulated 3'-UTR APA of sphingosine-1-phosphate lyase 1 (SGPL1) and cellular repressor of E1A stimulated genes 1 (CREG1), which contribute to ccRCC progression. Collectively, our data revealed that PABPN1 promotes ccRCC progression at least in part, by suppressing SGPL1 and CREG1. Thus, PABPN1 may be a potential therapeutic target in ccRCC.

Background:Clear cell renal cell carcinoma (ccRCC) is the most common renal cancer. Alternative polyadenylation (APA) plays an important role in the progression and immunity of multiple tumors. Although immunotherapy has emerged as an important treatment option for metastatic renal cell carcinoma, whether APA affects the tumor immune microenvironment (TIME) in ccRCC remains unclear.Methods:Patients with ccRCC were classified into two groups by performing a consensus clustering analysis of APA factor expression profiles. The Cancer Genome Atlas (TCGA) and the Gene Expression Omnibus (GEO) databases were used to assess the association between APA regulators and ccRCC prognosis. Through the use of the R package, GSVA, the correlation between SNRNP70 expression and tumor immune features were analyzed.Results:The TCGA data revealed that APA regulators were associated with Cytotoxic T-Lymphocyte Associated Protein 4 (CTLA4) expression. Cluster 1 exhibited a higher grade and histological tumor stage, as well as a worse prognosis compared to Cluster 2. A ssGSEA analysis demonstrated that Cluster 2 possessed an extensively higher level of immune infiltration. Moreover, high SNRNP70 expression was found to be positively correlated with CTLA4 expression and a poor prognosis in ccRCC. Thus, SNRNP70 might represent a novel immune-related prognostic biomarker in ccRCC. A pan-cancer analysis suggested that SNRNP70 may also play a role in other types of cancer by affecting the TIME.Conclusions:The data from this study indicate that APA regulators play a key role in immune infiltration in ccRCC. SNRNP70 is a promising prognostic biomarker and a potential target for ccRCC's immunotherapy.

Alternative polyadenylation (APA) is emerging as a major posttranscriptional mechanism for gene regulation in cancer. A prevailing hypothesis is that shortening of the 3' untranslated region (3'UTR) increases oncoprotein expression because of the loss of miRNA-binding sites (MBSs). We showed that the longer 3'UTR is associated with a more advanced tumor stage in patients with clear cell renal cell carcinoma (ccRCC). More surprisingly, 3'UTR shortening is correlated with better overall survival in patients with ccRCC. Furthermore, we identified a mechanism by which longer transcripts lead to increased oncogenic protein and decreased tumor-suppressive protein expression compared with the shorter transcripts. In our model, shortening of 3'UTRs by APA may increase the mRNA stability in the majority of the potential tumor-suppressor genes because of the loss of MBSs and AU-rich elements (AREs). Unlike potential tumor-suppressor genes, the potential oncogenes display much lower MBS and ARE density and globally much higher m6A density in distal 3'UTRs. As a result, 3'UTRs shortening decreases the mRNA stability of potential oncogenes and enhances the mRNA stability of potential tumor-suppressor genes. Our findings highlight the cancer-specific pattern of APA regulation and extend our understanding of the mechanism of APA-mediated 3'UTR length changes in cancer biology. (c) 2023 United States & Canadian Academy of Pathology. Published by Elsevier Inc. All rights reserved.

Purpose: To evaluate the safety and feasibility of lingual mucosal graft ureteroplasty (LMGU) combined with ureteral reimplantation (UR) for repairing managing multifocal ureteral strictures (MUS).Methods: Between December 2020 and December 2022, 14 patients underwent LMGU combined with UR. Their perioperative data were collected retrospectively and analyzed. For the proximal diseased ureter, the narrow segment was incised longitudinally to open the ventral wall of ureter, and a lingual mucosal graft was placed as an onlay graft. Meanwhile, UR was applied to treat distal ureteral strictures.Results: Of 14 patients, three (21.4%) had previously undergone a failed ureteral reconstruction. The mean (standard deviation [SD]) proximal stricture length was 4.0 cm (1.56), and distal ureteral stricture length was 4.3 cm (0.94). The mean (SD) operative time was 236 minutes (57), the estimated blood loss was 78 mL (41.5), and the length of postoperative stay was 6 days. One (7%) patient underwent double LMGU to treat proximal 2 segments of ureteral stricture. No open conversions and intraoperative complications occurred. With a mean follow-up of 15 months (range 6-29), the recurrence-free rate was 14/14 (100%).Conclusions: LMGU combined with UR is a feasible and effective technique for managing MUS and can be an alternative to ileal ureteral replacement or renal autotransplantation in some selected patients with MUS.

探讨采用4.5Fr/8Fr输尿管硬镜建立无扩张鞘极微通道处理经皮肾镜取石术(PCNL)中残石的可行性及安全性.回顾性分析自2018年11月-2021年10月收治的19例复杂性上尿路结石患者的临床资料.其中,平行盏结石15例,鹿角形结石4例;男11例,女8例.本组19例患者均行PCNL,首先在超声引导下建立F18微通道(第1通道)进行碎石,然后利用4.5Fr/8Fr输尿管硬镜建立无扩张鞘极微通道(第2、3通道)处理肾盏内残石.本组19例患者均成功建立2～3个经皮肾镜通道,其中双通道16例,三通道3例.第1通道留置peel-away鞘,第2、第3通道未使用扩张鞘.一期清石率达89.5％(17/19);2例有残留结石,术后行ESWL后自行排出.平均手术时间为(64.7±22.1)min,平均住院天数为(7.4±2.3)d,术后2 h血红蛋白平均下降(7.8±2.9)g/L.术中及术后无严重出血及感染病例,无输血及动脉栓塞治疗病例,也无胸膜、结肠等腹腔脏器损伤等并发症发生.采用4.5Fr/8Fr输尿管硬镜建立无扩张鞘极微通道处理PCNL术中肾盏残石可行、安全、有效、且更微创,可成为处理PCNL术中残留结石的一种选择.

目的:肾基质结石是一种发病率极低的泌尿系结石类型.本文总结诊断和治疗肾基质结石的临床特点及微创经皮肾镜取石术(PCNL)的治疗效果.方法:分析2018年10月—2020年12月收治的4例肾基质结石患者的诊治经过,对患者术前检查、术中发现、手术经过、围手术期治疗和随访情况进行分析.结果:腰痛和尿路感染是肾基质结石患者常见的就诊原因.影像学CT检查可显示肾盂内高密度影,CT值介于69～308 HU.手术中内镜下对结石形态的判断是诊断基质结石的重要手段.所有患者均行PCNL手术治疗,平均术后住院7.5 d.其中1例患者术后出现尿源性脓毒症,经积极治疗后痊愈,其余患者术后未发生严重并发症.患者平均随访9.5个月,均未见复发.结论:肾基质结石是一种罕见的泌尿系结石疾病,术前缺乏有效的判断方案.患者术前伴有泌尿系感染病史,泌尿系CT表现结合术中内镜下可见特殊结石形态是诊断基质结石的临床特征.PC-NL是目前治疗肾基质结石的主要方法,围手术期控制感染对患者的治疗非常重要.

目的:建立一种新的适用于输尿管软镜碎石术(RIRS)的肾盂解剖分类系统,以提高RIRS成功率和缩短学习曲线.方法:收集并分析139例接受RIRS患者的术中影像资料,我们总结了一种新的肾盏解剖分类方法.从2020年12月—2021年9月选取在我院医联体单位进行RIRS手术的40例患者,随机分为A、B两组,每组各20例,手术由该单位2位接受过RIRS培训并有一定手术经验的术者分别完成,其中A组术者继续沿用原有经验和习惯完成本研究,而B组术者在加入本研究前系统接受了我们的肾盏解剖分类方法学习和培训.通过比较两组患者术中肾盏定位时间、手术时间和术后3个月清石率(SFR),验证这个新分类方法的有效性.结果:我们的分类系统根据中组肾盏的位置将肾脏集合系统分为四类:中盏水平分布型(52.0％)、居上型(6.1％)、居下型(27.7％)和垂直分布型(14.2％).B组术者经过术前培训,该组患者术中肾盏定位时间和手术时间明显低于A 组[(1.3±0.3)min vs.(4.4±1.4)min,P＜0.001;(40.7±8.7)min vs.(57.7±18.7)min,P=0.001],术后3个月SFR也明显高于A组(95％vs.70％,P = 0.037).结论:我们总结了 一个行之有效的新肾盏解剖分类系统,实践证明其易于掌握,能有效缩短学习曲线和提高RIRS的手术效果,值得推广.

Objective It has been reported that intrinsic apoptosis is associated with the progression of bladder cancer (BC). Recent evidence suggests that polyribonucleotide nucleotidyltransferase 1 (PNPT1) is a pivotal mediator involved in RNA decay and cell apoptosis. However, the regulation and roles of PNPT1 in bladder cancer remain largely unclear. Methods The upstream miRNA regulators were predicted by in silico analysis. The expression levels of PNPT1 were evaluated by real-time PCR, Western blotting, and immunohistochemistry (IHC), while miR-183-5p levels were evaluated by qPCR in BC cell lines and tissues. In vitro and in vivo assays were performed to investigate the function of miR-183-5p and PNPT1 in apoptotic RNA decay and the tumorigenic capability of bladder cancer cells. Results PNPT1 expression was decreased in BC tissues and cell lines. Overexpression of PNPT1 significantly promoted cisplatin-induced intrinsic apoptosis of BC cells, whereas depletion of PNPT1 potently alleviated these effects. Moreover, oncogenic miR-183-5p directly targeted the 3 ' UTR of PNPT1 and reversed the tumor suppressive role of PNPT1. Intriguingly, miR-183-5p modulated not only PNPT1 but also Bcl2 modifying factor (BMF) to inhibit the mitochondrial outer membrane permeabilization (MOMP) in BC cells. Conclusion Our results provide new insight into the mechanisms underlying intrinsic apoptosis in BC, suggesting that the miR-183-5p-PNPT1 regulatory axis regulates the apoptosis of BC cells and might represent a potential therapeutic avenue for the treatment of BC.

Alternative polyadenylation (APA) is emerging as a crucial regulatory mechanism in bladder cancer (BC), while it remains elusive whether APA influences the tumor immune microenvironment (TIME) in BC. We identified two distinct subtypes of BC by APA-related regulatory genes expression profiles. The two subtypes have different pathological grades, prognostic outcomes, tumor immune infiltration characteristics, and pathway enrichment. Subsequently, CPSF3 was identified as a potential immune infiltration-related gene in BC. Highly expressed CPSF3 was positively correlated with unfavorable prognosis and high CD276 expression in BC. Moreover, we verified the expression of CPSF3 in BC tissues and cell lines by qRT-PCR. In conclusion, the study indicates that APA regulatory factors play an important role in immune infiltration of BC, and that CPSF3 was a potentially prognostic marker and immunotherapy target for BC.

Background: Management of a long proximal ureteral stricture is challenging. Lingual mucosal graft ureteroplasty (LMGU) is a novel minimally invasive technique for ureteral reconstruction that avoids the morbidity of bowel interposition or autotransplantation. Objective: To evaluate the long-term effectiveness of LMGU for managing long, complex proximal ureteral strictures in a multi-institutional cohort of patients.Design, setting, and participants: This retrospective study involved data for 41 patients treated with LMGU at three centers between June 2015 and January 2021.Surgical procedure: LMGU was performed using either an onlay ureteroplasty in which the diseased ureter was incised ventrally and repaired with a lingual mucosal graft (LMG) to widen the ureteral lumen, or an augmented anastomotic technique in which the obliterated segment of the ureter was excised and reanastomosed primarily on dor-sal side, and an LMG was placed on the ventral side.Measurements: Pre-, intra-, and postoperative variables and outcomes were assessed. A descriptive statistical analysis was performed. Results and limitations: Of 41patients, 40 were operated with laparoscopic procedures and one with a robot. Twenty-four (59%) patients underwent an onlay ureteroplasty, and 17 (41%) underwent an augmented anastomotic ureteroplasty. The reconstructed ureter was wrapped with omentum in 90% of cases. The median (range) stricture length was 4.8 cm (2.0-8.0), operative time was 166 min (98-306), and estimated blood loss was 65 ml (15-220). No open conversions and intraoperative complications occurred. At a median follow-up of 35 mo (range 13-80), the overall success rate was 97.6% (40/41).Conclusions: LMGU is a safe, feasible, and effective long-term technique for managing long, complex proximal ureteral strictures.

Objectives: Compare color Doppler (Color) ultrasound-guided puncture with common type-B (Type-B) ultrasound-guided puncture in reducing the incidence of hemorrhagic complications of percutaneous nephrolithotomy (PCNL).Materials and Methods: A total of 348 patients who received PCNL from September 2017 to December 2018 were divided into Color (231 cases) and Type-B groups (117 cases). The avascular area of the target fornix was pinpointed in the Color group, whereas the middle of the target fornix was the default puncture point in the Type-B group. Tract bleeding, nephrostomy tract creation time, operation time, postoperative hemoglobin (Hb) values and serum creatine (Scr) concentrations, and stone-free rates were analyzed.Results: Color Doppler imaging revealed that 35.1% of the cases in the Color group (81/231) had variable artery positioning in the target fornix. Tract bleeding and postoperative Hb reduction in the Color group were significantly lower than the Type-B group (10.8% vs 24.8%, p = 0.0007, and 4.87 +/- 8.58 g/L vs 7.70 +/- 8.90 g/L, p = 0.0044, respectively). The postoperative hospitalization of the Color group was also shortened (8.3 +/- 5.9 days vs 9.7 +/- 3.0 days, p < 0.0001). Although working channel creation took longer in this group (4.2 +/- 0.3 minutes vs 3.6 +/- 0.2 minutes, p < 0.0001), there were no significant differences in the total operation time between the two groups (39.2 +/- 15.2 minutes vs 36.4 +/- 16.5 minutes, p = 0.1097) or postoperative Scr and stone-free rates.Conclusion: Vascular variation of the fornix is very common. Consistent puncture of the avascular area of the target fornix significantly lowered tract bleeding and postoperative Hb decrease compared with traditional procedures. Color Doppler ultrasound-guided puncture is, thus, useful to reduce the incidence of severe hemorrhagic complications of PCNL.

Purpose To present our initial experience and evaluate the feasibility of the novel technique of completely intracorporeal laparoscopic “reverse 7” ileal ureteral replacement (IUR). Materials and methods Between December 2018 and September 2019, two patients underwent completely intracorporeal laparoscopic “reverse 7” IUR, which were female patients with bilateral extensive ureteral strictures (BEUS) secondary to radical hysterectomy and pelvic lymph node dissection for cervical cancer and postoperative radiotherapy. Antegrade pyelography and retrograde pyelography showed BEUS preoperatively. Results The novel technique was performed successfully by the same surgeon without conversion to open surgery. The operating time of each patient was 420 min and 410 min, respectively. Meanwhile, the estimated blood loss of each patient was 120 ml and 100 ml, respectively. There were no major complications during the perioperative period. After ureteral stent was removed, antegrade pyelography postoperatively revealed excellent drainage with the resolution of hydronephrosis in both patients. After removing of ureteral stent and nephrostomy tube, no patients have a complaint about the donor site or the onset of flank pain. Conclusions To our knowledge, we present the initial experience with completely intracorporeal laparoscopic “reverse 7” IUR. With initial follow-up outcomes, this novel minimally invasive technique appears to be feasible and efficacious in treating BEUS in carefully selected patients.

Bladder cancer (BC) is a common genitourinary malignancy. This study investigated the regulatory effects of an exonic circRNA, circNUDT21, in the progression of BC. The circNUDT21 level was overexpressed in BC tissues and cell lines as compared to normal controls. Overexpression and silencing of circNUDT21 promoted and inhibited, respectively, the proliferative and invasive abilities of BC cells. Mechanistical analysis showed that circNUDT21 acted as a miR-16-1-3p sponge and that MDM2 was a potential downstream target of miR-16-1-3p. We further verified that overexpression of circNUDT21 was associated with elevated MDM2 and reduced p53 expression. CircNUDT21 promoted BC progression by acting as a sponge of miR-16-1-3p to activate the miR-16-1-3p/MDM2/p53 axis. These findings suggest that circNUDT21 functions as an oncogenic circRNA and may be a potential therapy target for BC.

Objectives. Diabetic wound inflammation deficiencies lead to ulcer development and eventual amputation and disability. Our previous research demonstrates that myeloid-derived suppressor cells (MDSCs) accumulate during inflammation and promote chronic wound healing via the regulation of Kruppel-like factor 4 (KLF4). In this study, we aimed to investigate the potential roles of MDSCs and KLF4 in diabetic wound healing. Methods. An ob/ob mouse pressure ulcer (PU) model was used to evaluate the process of wound healing. The expression levels of KLF4 and IL-17A were measured by real-time PCR, and the population of MDSCs and Th17 cells was measured by flow cytometry. The levels of cytokines were determined by an immunosuppression assay. Results. KLF4 deficiency in the diabetic PU model resulted in decreased accumulation of MDSCs, increased expansion of Th17 cells, and significantly delayed wound healing. Conversely, KLF4 activation by APTO-253 accelerated wound healing accompanied by increased MDSC populations and decreased numbers of Th17 cells. MDSCs have been proven to mediate Th17 differentiation via cytokines, and our in vitro data showed that elevated KLF4 expression in MDSCs resulted in reduced Th17 cell numbers and, thus, decreased levels of cytokines indispensable for Th17 differentiation. Conclusions. Our study revealed a previously unreported function of KLF4-regulated MDSCs in diabetic wound healing and identified APTO-253 as a potential agent to improve the healing of pressure ulcers.

目的:比较微通道经皮肾镜取石术(mini-PCNL)和输尿管软镜手术(RIRS)对直径＜2 cm肾结石的有效性和安全性.方法:回顾性分析2018年1月～2019年12月接受微创手术治疗的直径＜2 cm的肾结石患者为研究对象.共计64例纳入研究,根据接受手术方式的不同将患者分为mini-PCNL组和RIRS组.比较两组手术时间、术后Hb下降值、术后发热率、术后住院时间等手术指标.结果:RIRS组术后Hb下降值和术后住院时间显著性低于mini-PCNL组(P＜0.05),mini-PCNL组手术时间和术后发热率显著性低于RIRS组(P＜0.05),mini-PCNL组术后1个月结石清除率显著性高于RIRS组(P＜0.05).结论:mini-PCNL和RIRS术式均是治疗直径＜2 cm肾结石的有效手段,2种治疗方式各有优缺点,临床应根据肾脏解剖和结石分布情况具体选择.

Background: The efficacy of a eutectic mixture of local anesthetics (EMLA) for pain control in extracorporeal shock wave lithotripsy is unclear. The aim of this study was to assess the effect of EMLA cream on pain control during extracorporeal shock wave lithotripsy. Material/Methods: We searched Medline, EMBASE, and the Cochrane Central Register of Controlled Trials to identify relevant randomized controlled trials that compared the pain control efficacies of EMLA vs. placebo. Study eligibility criteria, participants, and interventions: Randomized controlled trials that compared the effect of EMLA with placebo cream for patients underwent extracorporeal shock wave lithotripsy. Study appraisal and synthesis methods: Two review authors extracted data independently using a designed data extraction form and risk of bias by Cochrane Collaboration's tool. Results: Nine studies, including 10 randomized controlled trials with 1167 patients, were eligible. The EMLA group experienced less pain (mean difference, -0.47; 95% confidence interval, -0.78 to -0.16; p=0.003) and shorter duration of lithotripsy (mean difference, -1.70, 95% confidence interval: -2.31 to -1.10, p<0.0001) than the placebo group. There were no significant differences in the number of patients who needed extra intravenous medication (p=0.610), number of patients with insufficient extracorporeal shock wave lithotripsy pain control (p=0.530), and number of patients with opioid adverse effects (p=0.320). Limitations: Long interval between the studies, different kinds of lithotripters. Conclusions: EMLA can reduce pain during the ESWL procedure.

探究新型冠状病毒肺炎疫情期间泌尿外科相关急症的治疗原则、诊疗策略和治疗方式.方法:研究分析在新型冠状病毒肺炎疫情期间华中科技大学同济医学院附属协和医院泌尿外科各类急症的诊疗情况,并对各类急症的诊疗方法和处理进行讨论.结果:我们中心自1月20日～3月26日合计收治和处理各类泌尿外科急症累计729例,包括血尿65例、尿潴留356例、肾绞痛256例、肾积水8例、更换引流管42例、泌尿系损伤2例.所有急症患者中包括新型冠状病毒肺炎确诊患者1 6例(2.1 9％)、疑似患者36例(4.94％)、确诊康复患者6例(0.82％).所有急症患者在分级防护下,分别行相应的处理.无急症患者死亡病例,患者转归良好并得到进一步治疗.结论:在新型冠状病毒肺炎流行期间,急性尿潴留和肾绞痛是疫情期间最常见泌尿外科急症.由于泌尿外科专科常规医疗模式受到较大冲击,对于新型疫情期间泌尿外科急症的处理需要科学防护,并采取安全有效的管理模式和诊疗方案.

Alport syndrome (AS) is a rare and inherited renal disorder with an autosomal recessive mode of inheritance. AS patients usually manifest with hematuria and progressive renal disorder also occasionally accompanied by hearing loss and ophthalmic disease. Germline variants in collagen type IV α-4 (COL4A4) gene lead to autosomal recessive Alport syndrome. In the present study, we investigated a Chinese family with Alport syndrome. The index patient is a 24-year-old Chinese woman who has been suffering from proteinuria. Renal biopsy and renal pathology were performed and found focal segmental glomerulosclerosis (FSGS) like lesion in the index patient. The index patient also presented with binocular edema and blurred vision. However, binocular edema dissipated gradually without any further treatment. Unlikely, the index patient was not diagnosed with hearing impairment. Index patient’s parents are phenotypically normal. Targeted next generation sequencing and Sanger sequencing was performed. A novel heterozygous single nucleotide insertion, c.4760_4761insC and a previously reported likely pathogenic variant, c.1323_1340delTGGCTTGCCTGGAGCACC in the COL4A4 gene were identified in the index patient. The novel heterozygous single nucleotide insertion (c.4760_4761insC) leads to a frameshift which eventually results in the formations of a truncated COL4A4 protein. In addition, the other heterozygous likely pathogenic variant, c.1323_1340delTGGCTTGCCTGGAGCACC, has been already identified with causing AS an autosomal recessive mode of inheritance. Sanger sequencing confirmed that these two variants were inherited in the index patient from her father and mother, respectively. These two variants were not found in 100 normal control individuals. In conclusion, our present finding emphasizes the significance of high throughput targeted next generation sequencing technology for rapid and cost-effective genetic screening which allows us easy and accurate clinical diagnosis of AS patients.