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Immunosuppressant-resistant nephrotic syndrome and primary amenorrhea: A case report of adult Frasier syndrome and literature review. 免疫抑制剂抵抗性肾病综合征和原发性闭经:成人弗雷泽综合征病例报告和文献综述。
IF 1.1 4区 医学 Q3 UROLOGY & NEPHROLOGY Pub Date : 2024-07-22 DOI: 10.5414/CN111432
Caifeng Li, Liyu Lin, Tao Pu, Jie Teng, Ziyan Shen

We present a case of a 19-year-old who developed nephrotic syndrome with preserved renal function. Renal biopsy confirmed focal segmental glomerular sclerosis (FSGS). No remission was achieved despite 2 years of treatment with glucocorticoids, mycophenolate mofetil, tacrolimus, and cyclophosphamide. After transfer to our center, we performed re-examination of renal pathology by electron microscope (EM), chromosomal karyotype, and gene analysis. EM revealed uneven thickness of the glomerular basement membrane without obvious stratification or fracture. Gene analysis revealed a splice mutation (1447+1G>A) in IVS9 and chromosomal karyotype was (46, XY), confirming the diagnosis of Frasier syndrome, which was consistent with primary amenorrhea overlooked by local nephrologists. Cyclosporin A was prescribed to reduce the proteinuria, but serum creatinine increased to 152 μmol/L.

我们报告了一例 19 岁患者的病例,他患上了肾病综合征,但肾功能保持良好。肾活检证实了局灶节段性肾小球硬化症(FSGS)。尽管使用糖皮质激素、霉酚酸酯、他克莫司和环磷酰胺治疗了两年,病情仍未缓解。转到本中心后,我们通过电子显微镜(EM)、染色体核型和基因分析重新检查了肾脏病理。电子显微镜显示肾小球基底膜厚度不均,没有明显分层或断裂。基因分析显示,IVS9发生了剪接突变(1447+1G>A),染色体核型为(46,XY),确诊为弗雷泽综合征,这与当地肾病专家忽视的原发性闭经一致。为减少蛋白尿,医生开了环孢素 A,但血清肌酐升至 152 μmol/L。
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引用次数: 0
Membranous nephropathy due to malignancy: Is end stage kidney disease an irreversible final route? 恶性肿瘤导致的膜性肾病:终末期肾病是不可逆的最终途径吗?
IF 1.1 4区 医学 Q3 Medicine Pub Date : 2024-05-01 DOI: 10.5414/CN111326
Ana Carlota Vida, Pedro Vieira, Gil Silva
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引用次数: 0
Gastric Burkitt's monomorphic post-transplant lymphoproliferative disorder after kidney transplantation: A case report. 肾移植后胃伯基特单形性移植后淋巴组织增生症:病例报告。
IF 1.1 4区 医学 Q3 Medicine Pub Date : 2024-05-01 DOI: 10.5414/CN111321
Yusuke Yoshimura, Tatsuya Suwabe, Arisa Fujiki, Daisuke Kaji, Yuki Asano-Mori, Yuki Oba, Hiroki Mizuno, Masayuki Yamanouchi, Kiho Tanaka, Eiko Hasegawa, Katsuyuki Miki, Takayoshi Yokoyama, Yuki Namamura, Yasuo Ishii, Satoshi Yamashita, Kei Kono, Keiichi Kinowaki, Yutaka Takazawa, Naoki Sawa, Yoshifumi Ubara

We report on a 53-year-old Japanese man diagnosed with gastric Burkitt's monomorphic post-transplant lymphoproliferative disorder (B-PTLD) after endoscopy for gastric discomfort 28 months after the patient underwent renal transplantation in Ethiopia. Serum Epstein-Barr virus (EBV) tests were negative before transplantation, but the tumor cells collected from a gastric biopsy showed positive EBV-encoded small RNAs (EBER) at B-PTLD onset. Intensive treatment started with R(rituximab)-CHOP therapy and continued with DA-EPOCH-R therapy has been effective, and relapse has not yet occurred. Burkitt lymphoma has a poor prognosis, but B-PTLD may be effectively treated with high-dose chemotherapy. This is a rare case of gastric B-PTLD in a Japanese patient.

我们报告了一名53岁的日本男子在埃塞俄比亚接受肾移植28个月后,因胃部不适接受内镜检查,被诊断为胃伯基特单形性移植后淋巴组织增生性疾病(B-PTLD)。移植前血清爱泼斯坦-巴氏病毒(EBV)检测呈阴性,但在B-PTLD发病时,胃活检收集的肿瘤细胞显示EBV编码的小核糖核酸(EBER)呈阳性。从R(利妥昔单抗)-CHOP疗法开始的强化治疗,再加上DA-EPOCH-R疗法,疗效显著,至今尚未复发。Burkitt 淋巴瘤预后较差,但 B-PTLD 可以通过大剂量化疗得到有效治疗。这是一例罕见的日本患者胃B-PTLD病例。
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引用次数: 0
SARS-CoV-2 Omicron infection in a cohort of hospitalized kidney transplant recipients: Risk factors of severity. 一组住院肾移植受者中的 SARS-CoV-2 Omicron 感染:严重程度的风险因素。
IF 1.1 4区 医学 Q3 Medicine Pub Date : 2024-05-01 DOI: 10.5414/CN111303
Zhitao Cai, Tianyu Wang

Background: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) Omicron is a major coronavirus variant, which was prevalent in China at the end of 2022 and caused widespread infection. As an immunosuppressed group, renal transplant recipients with SARS-CoV-2 infection are prone to developing serious pneumonia or an adverse outcome event if the infection is not treated in time. Here, we analyze the possible risk factors of infection severity.

Materials and methods: 92 cases of moderate and severe SARS-CoV-2 infection after renal transplantation were collected. Statistical methods, including Fisher's tests, F test, Spearman relative values, and multi-parameter logistic regression models, were used to analyze the risk factors for severe SARS-CoV-2 infection in renal transplant recipients.

Results: 44 cases complicated with hypertension were observed in the study cohort, among whom 30 were severe (OR: 4.63, p < 0.001). Out of 51 male patients infected with Omicron, 30 male patients presented with severe SARS-CoV-2 (OR: 2.45, p = 0.039). In renal transplant patients, hypertension comorbidity was closely correlated with clinical presentation (R = 0.369, p < 0.001). Blood routine test, chemistries, and additional indices showed increased neutrophils and C-reactive protein in patients with severe disease compared with the moderate group according to one-way analysis of variance (p = 0.004), while CD3 (p = 0.02) and CD4 (p = 0.04) showed lower expressional levels. We also observed meaningful correlations between neutrophil levels and hypertension comorbidity (R = 0.222, p = 0.034) and between interleukin-6 (IL-6) levels and diabetes comorbidity (R = 0.315, p = 0.011), with IL-6 considered a key factor in the context of coronavirus disease.

Conclusion: Renal transplant recipients were generally susceptible to infection with the Omicron variant, with a more pronounced incidence of severe illness observed in the group with hypertension comorbidity.

背景:严重急性呼吸系统综合征冠状病毒 2(SARS-CoV-2)Omicron 是一种主要的冠状病毒变种,2022 年底在中国流行并造成大面积感染。作为免疫抑制群体,感染SARS-CoV-2的肾移植受者如不及时治疗,易发生严重肺炎或不良结局事件。材料和方法:收集了 92 例肾移植术后中度和重度 SARS-CoV-2 感染病例。采用Fisher检验、F检验、Spearman相对值和多参数逻辑回归模型等统计方法分析肾移植受者SARS-CoV-2重度感染的危险因素:结果:研究队列中观察到 44 例并发高血压,其中 30 例为重症(OR:4.63,P 结论:肾移植受者普遍易受 SARS-CoV-2 感染:肾移植受者普遍容易感染 Omicron 变体,在合并高血压的人群中,重症的发生率更高。
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引用次数: 0
The role of complement inhibitors in thrombotic microangiopathy with systemic lupus erythematosus. 补体抑制剂在系统性红斑狼疮血栓性微血管病中的作用。
IF 1.1 4区 医学 Q3 Medicine Pub Date : 2024-05-01 DOI: 10.5414/CN111279
Aliza Anwar Memon, Krista L Lentine, David Brink, Mowaffaq Said
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引用次数: 0
Prevalence of arterial stiffness and associated factors in Thai hemodialysis patients: A multicenter cross-sectional study. 泰国血液透析患者动脉僵化的患病率及相关因素:一项多中心横断面研究。
IF 1.1 4区 医学 Q3 Medicine Pub Date : 2024-05-01 DOI: 10.5414/CN111187
Nuanjanthip Naiyarakseree, Jeerath Phannajit, Wichai Naiyarakseree, Thana Thongsricome, Nanta Mahatanan, Pagaporn Asavapujanamanee, Sookruetai Lekhyananda, Supat Vanichakarn, Yingyos Avihingsanon, Kearkiat Praditpornsilpa, Somchai Eiam-Ong, Paweena Susantitaphong

Background: Hemodialysis (HD) patients have higher risks of cardiovascular morbidity and mortality compared to the general population. Cardio-femoral pulse wave velocity (cfPWV) is associated with cardiovascular morbidity and mortality in HD patients. This study aimed to evaluate the prevalence and associated factors of arterial stiffness in Thai HD patients.

Materials and methods: This cross-sectional multicenter study was conducted at 4 HD centers in Bangkok, Thailand. cfPWV and peripheral blood pressure were assessed using SphygmoCor XCEL Model EM4C (AtCor medical Inc., Sydney, Australia). Significant arterial stiffness was defined by cfPWV > 10 m/s. Univariate and multivariable regression models were used to identify factors associated with arterial stiffness.

Results: 144 HD patients were assessed for arterial stiffness by cfPWV measurement. The mean age of the patients was 57.8 ± 12.8 years, with 50% male and a mean dialysis vintage of 7.6 years. The mean cfPWV was 11.7 ± 3.0 m/s. The prevalence of increased arterial stiffness was 73.6%. Multivariable analysis showed that older age, hypertension, lower HD adequacy, and higher fasting plasma glucose were independently associated with arterial stiffness.

Conclusion: There was a high prevalence of arterial stiffness among HD patients. Some modifiable factors found to be independently associated, including dialysis adequacy and glycemic control, should be further investigated to identify approaches to retard vascular stiffness.

背景:与普通人群相比,血液透析(HD)患者的心血管发病率和死亡率风险较高。心-股脉搏波速度(cfPWV)与血液透析患者的心血管发病率和死亡率有关。本研究旨在评估泰国 HD 患者动脉僵化的患病率和相关因素:这项横断面多中心研究在泰国曼谷的 4 家 HD 中心进行。使用 SphygmoCor XCEL Model EM4C(AtCor 医疗公司,澳大利亚悉尼)对 cfPWV 和外周血压进行评估。明显的动脉僵化定义为 cfPWV > 10 m/s。采用单变量和多变量回归模型确定与动脉僵化相关的因素:通过测量 cfPWV,对 144 名 HD 患者进行了动脉僵化评估。患者的平均年龄为 57.8 ± 12.8 岁,50% 为男性,平均透析年限为 7.6 年。平均 cfPWV 为 11.7 ± 3.0 m/s。动脉僵化增加的发生率为 73.6%。多变量分析表明,年龄较大、高血压、较低的血液透析充分性和较高的空腹血浆葡萄糖与动脉僵化有独立关联:结论:在血液透析患者中,动脉僵化的发病率很高。应进一步研究一些可改变的因素,包括透析充分性和血糖控制,以确定延缓血管僵化的方法。
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引用次数: 0
Implication of acute tubular injury in minimal change nephrotic syndrome. 急性肾小管损伤对微小病变肾病综合征的影响。
IF 1.1 4区 医学 Q3 Medicine Pub Date : 2024-05-01 DOI: 10.5414/CN111218
Hillary Grainer, Maria V DeVita, Tung Ming Leung, Vanesa Bijol, Jordan L Rosenstock

While acute tubular injury (ATI) is known to occur in a significant number of minimal change disease (MCD) nephrotic syndrome cases with acute kidney injury (AKI), the clinical significance is not certain, and AKI may also occur without ATI. This study aimed to evaluate whether the severity of AKI defined by Kidney Disease Improving Global Outcomes (KDIGO) criteria correlated with the presence or severity of ATI in a series of adult patients with MCD. We also looked at whether time to remission of nephrotic syndrome (NS) with treatment correlated with the presence of ATI in those with and without AKI. We excluded patients with secondary MCD. Of 61 patients, 20 had AKI (33%). ATI was significantly more likely to occur in those with AKI than in those without AKI (60 vs. 24%). Overall, the severity of AKI did not clearly correspond with the severity of ATI. Remission rates at 4 weeks were lowest (25%) in those with both AKI and ATI, while they were highest (100%) in those with neither AKI nor ATI. Patients with AKI but no ATI and those with no AKI but having ATI were intermediate in remission rates and similar to each other (60 and 62%, respectively). The time to remission in the group of those without AKI was significantly longer in those with ATI than in those without (p = 0.0027), but the numerical difference in remission did not reach statistical significance in the smaller group of AKI patients. Patients with ATI were older and more often male than those without ATI. It appears that having ATI may predict a slower remission rate in MCD though the reason for this is unclear. The different demographics of those with ATI may also play a role.

虽然已知急性肾小管损伤(ATI)会发生在大量伴有急性肾损伤(AKI)的微小病变(MCD)肾病综合征病例中,但其临床意义尚不确定,而且急性肾损伤也可能在没有 ATI 的情况下发生。本研究旨在评估肾病改善全球结局(KDIGO)标准所定义的 AKI 严重程度是否与一系列 MCD 成年患者的 ATI 存在或严重程度相关。我们还研究了肾病综合征(NS)经治疗缓解的时间是否与存在或不存在 AKI 的 ATI 患者相关。我们排除了继发性 MCD 患者。在61名患者中,有20人患有AKI(33%)。有 AKI 的患者发生 ATI 的几率明显高于无 AKI 的患者(60% 对 24%)。总体而言,AKI 的严重程度与 ATI 的严重程度并不完全一致。同时患有缺氧性肾脏损伤和 ATI 的患者 4 周后的缓解率最低(25%),而既无缺氧性肾脏损伤也无 ATI 的患者缓解率最高(100%)。有 AKI 但无 ATI 的患者和无 AKI 但有 ATI 的患者的缓解率介于两者之间,彼此相似(分别为 60% 和 62%)。在无 AKI 患者组中,ATI 患者的缓解时间明显长于无 AKI 患者(p = 0.0027),但在较小的 AKI 患者组中,缓解时间的数值差异未达到统计学意义。与无 ATI 患者相比,ATI 患者年龄更大,男性更多。看来,ATI可能预示着MCD的缓解率较慢,但原因尚不清楚。ATI患者不同的人口统计学特征也可能是原因之一。
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引用次数: 0
Determinants of non-diabetic kidney diseases in type 2 diabetic patients: Twenty years of single center experience. 2 型糖尿病患者非糖尿病肾脏疾病的决定因素:二十年的单中心经验
IF 1.1 4区 医学 Q3 Medicine Pub Date : 2024-05-01 DOI: 10.5414/CN111093
Tamer Sakaci, Elbis Ahbap, Taner Basturk, Mustafa Ortaboz, Ayse Aysim Ozagari, Emrah Erkan Mazı, Kamile Gulcin Eken, Nuri Baris Hasbal, Abdulkadir Unsal

Background: Diabetic nephropathy is one of the most common complications associated with diabetes. However, non-diabetic kidney disease has been reported in patients with type 2 diabetes at varying incidence rates. The objective of our study is to investigate the occurrence, clinicopathological characteristics, and inflammatory markers linked to diabetic and non-diabetic nephropathy (NDN) in patients with type 2 diabetes mellitus (DM). Additionally, we aimed to explore the possibility of identifying non-diabetic pathology using different biopsy indications.

Materials and methods: A total of 159 patients with type 2 DM who underwent renal biopsy at a tertiary care nephrology clinic between January 2000 and January 2022 were enrolled in the study. We collected comprehensive data, including patient demographics, co-morbidities, diabetes duration, renal biopsy indications and results, serological markers, renal function, diabetic retinopathy (DRP), full blood count, blood biochemistry, urinalysis, and inflammatory markers. Patients were categorized based on their biopsy indications, and their biopsy results were classified into three groups: isolated NDN, isolated diabetic nephropathy (DN), and mixed nephropathy with concurrent NDN. We evaluated the relationship between biopsy indications and accompanying pathologies and statistically assessed the likelihood of each biopsy indication detecting non-diabetic renal pathology. Additionally, differences in other data, including demographic and laboratory results and medical histories, among the three groups were investigated.

Results: The most frequent indication of renal biopsy was atypical presentations of nephrotic syndrome or nephrotic range proteinuria (ANS/ANP) in 25.1% of patients. Other indications included unexplained renal failure (URF) in 22.6%, atypical presentations of non-nephrotic range proteinuria (ANNP) in 18.2%, acute kidney injury or rapidly progressive kidney dysfunction (AKI/RPKD) in 16.9%, microscopic hematuria in 15.7%, URF with ANNP in 11.3%, and severe nephrotic range proteinuria (SNP) in 9.4%. Renal biopsy revealed isolated NDN in 64.8%, DN in 25.1%, and mixed nephropathy in 10.1% of patients. Primary glomerular diseases were the main non-diabetic renal pathology, predominantly focal segmental glomerulosclerosis (FSGS) (36.4%) followed by MN (10.6%) and IgA nephropathy (7.5%). In comparison with the isolated DN and mixed nephropathy groups, patients in the isolated NDN group had significantly shorter diabetes duration, fewer DRP, as well as lower serum creatinine and neutrophil-to-lymphocyte ratio (NLR). Multivariate logistic regression analysis revealed that presence of hematuria (OR 4.40; 95% CI 1.34 - 14.46, p = 0.014), acute nephrotic range proteinuria (OR 11.93; 95% CI 1.56 - 90.77, p = 0.017), and AKI/APKD (OR 41.08; 95% CI 3.40 - 495.39, p = 0.003) were strong predictors of NDN. Lower NLR (OR 0.77; 95% CI 0.

背景:糖尿病肾病是糖尿病最常见的并发症之一。然而,在 2 型糖尿病患者中也有非糖尿病肾病的报道,其发病率各不相同。我们的研究旨在调查 2 型糖尿病(DM)患者中糖尿病肾病和非糖尿病肾病(NDN)的发生率、临床病理特征以及与之相关的炎症标志物。此外,我们还旨在探索利用不同活检适应症识别非糖尿病病变的可能性:2000年1月至2022年1月期间,共有159名2型糖尿病患者在一家三级医院肾内科诊所接受了肾活检。我们收集了全面的数据,包括患者人口统计学特征、合并疾病、糖尿病病程、肾活检适应症和结果、血清学标志物、肾功能、糖尿病视网膜病变(DRP)、全血细胞计数、血液生化、尿液分析和炎症标志物。根据活检适应症对患者进行分类,并将活检结果分为三组:孤立的 NDN、孤立的糖尿病肾病(DN)和并发 NDN 的混合肾病。我们评估了活检适应症与伴随病理之间的关系,并对每种活检适应症检测到非糖尿病肾脏病理的可能性进行了统计评估。此外,还调查了三组患者在人口统计学、实验室结果和病史等其他数据方面的差异:结果:最常见的肾活检适应症是非典型性肾病综合征或肾病范围蛋白尿(ANS/ANP),占患者总数的25.1%。其他适应症包括:22.6%的患者出现原因不明的肾衰竭(URF),18.2%的患者出现非肾病范围蛋白尿(ANNP)的不典型表现,16.9%的患者出现急性肾损伤或快速进展性肾功能障碍(AKI/RPKD),15.7%的患者出现镜下血尿,11.3%的患者出现URF合并ANNP,9.4%的患者出现严重肾病范围蛋白尿(SNP)。肾活检结果显示,64.8%的患者患有孤立的NDN,25.1%的患者患有DN,10.1%的患者患有混合性肾病。原发性肾小球疾病是主要的非糖尿病肾脏病变,主要是局灶节段性肾小球硬化症(FSGS)(36.4%),其次是MN(10.6%)和IgA肾病(7.5%)。与孤立的 DN 和混合肾病组相比,孤立的 NDN 组患者的糖尿病病程明显更短、DRP 更少、血清肌酐和中性粒细胞与淋巴细胞比值(NLR)更低。多变量逻辑回归分析显示,血尿(OR 4.40;95% CI 1.34 - 14.46,p = 0.014)、急性肾炎范围蛋白尿(OR 11.93;95% CI 1.56 - 90.77,p = 0.017)和 AKI/APKD (OR 41.08;95% CI 3.40 - 495.39,p = 0.003)是 NDN 的有力预测因素。较低的 NLR(OR 0.77;95% CI 0.60 - 0.98,p = 0.035)、较短的糖尿病病程(OR 0.90;95% CI 0.84 - 0.97,p = 0.010)和无 DRP(OR 0.35;95% CI 0.12 - 0.98,p = 0.046)也是 NDN 的独立指标。接收者操作特征曲线(ROC)分析显示,NLR 的临界值≤ 3.01(灵敏度为 63.1%,特异性为 63.5%)可预测非糖尿病肾脏病变(p = 0.006):结论:2 型糖尿病患者的肾活检结果表明,非糖尿病肾病的发病率可能比假定的要高,主要表现为原发性肾小球疾病。出现 AKI/RPKD、血尿和 ANS/ANP 可作为非糖尿病肾脏病变的可靠指标。在较为模糊的情况下,糖尿病病程较短、无 DRP 和较低的 NLR 值等因素可能有助于临床医生做出活检决定。
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引用次数: 0
Rituximab treatment in resistant lupus nephritis: A single-center prospective study. 抗药性狼疮性肾炎的利妥昔单抗治疗:单中心前瞻性研究
IF 1.1 4区 医学 Q3 Medicine Pub Date : 2024-04-25 DOI: 10.5414/CN111104
S. Alam, M. Mazumder, Manjuri Sharma, P. Mahanta, M. Parry, P. Doley
BACKGROUNDLupus nephritis (LN) is a serious manifestation of systemic lupus erythematosus (SLE) and failure to respond to traditional immunosuppression increases morbidity and mortality. Rituximab has been considered a novel therapeutic option for the management of SLE.MATERIALS AND METHODSWe conducted a single-center, prospective, observational study from July 2018 to June 2019 to evaluate the effectiveness of rituximab in patients with resistant LN. Resistant LN was defined as the failure to respond to conventional immunosuppressive therapy including both cyclophosphamide and mycophenolate mofetil. All adult patients (> 18 years) with biopsy-proven class III/IV LN were included in the study. Four doses of intravenous rituximab (375 mg/m2) on 0, 1, 2, 3 weeks were administered. Patients were followed for 6 months, and the rates of complete renal response (CRR), partial renal response (PRR), or no renal response (NRR) were measured. The change in baseline 24-hour urine protein, mean serum creatinine levels, and mean serum CD-19 levels at 24 weeks were also measured.RESULTSSix months after rituximab therapy, total sustained renal response (CRR+PRR) was observed in 52% cases of resistant LN (CRR was achieved in 24% of patients and PRR in 28%, respectively). Rituximab was associated with a significant decline in the 24-hour urine protein, even in non-responders. However, the improvement in eGFR and serum creatinine was not statistically significant. The mean absolute CD-19 count was significantly low in responders compared to the non-responder group.CONCLUSIONRituximab is a safe and effective therapeutic strategy for patients with resistant LN.
背景狼疮肾炎(LN)是系统性红斑狼疮(SLE)的一种严重表现,对传统免疫抑制无效会增加发病率和死亡率。利妥昔单抗一直被认为是治疗系统性红斑狼疮的新型治疗方案。材料与方法我们于2018年7月至2019年6月开展了一项单中心、前瞻性、观察性研究,以评估利妥昔单抗对耐药LN患者的疗效。耐药 LN 的定义是对常规免疫抑制疗法(包括环磷酰胺和霉酚酸酯)无效。所有经活检证实患有 III/IV 级 LN 的成年患者(大于 18 岁)均被纳入研究范围。研究人员分别于 0、1、2、3 周静脉注射四次利妥昔单抗(375 毫克/平方米)。对患者进行为期6个月的随访,并测定完全肾脏反应(CRR)、部分肾脏反应(PRR)或无肾脏反应(NRR)的发生率。结果利妥昔单抗治疗 6 个月后,52% 的耐药 LN 病例观察到总的持续肾脏反应(CRR+PRR)(分别有 24% 的患者达到 CRR,28% 的患者达到 PRR)。利妥昔单抗与 24 小时尿蛋白的显著下降有关,即使在非应答者中也是如此。然而,eGFR 和血清肌酐的改善并无统计学意义。结论利妥昔单抗对耐药 LN 患者是一种安全有效的治疗策略。
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引用次数: 0
Incorporating genetic testing into a routine kidney clinic. 将基因检测纳入常规肾脏门诊。
IF 1.1 4区 医学 Q3 Medicine Pub Date : 2024-04-25 DOI: 10.5414/CN111138
Jingjing Zhang, Wing Zeng, Seyed Hamrahian, Omar H Maarouf
Incorporating genetic testing in routine outpatient nephrology clinic can improve on chronic kidney disease (CKD) diagnosis and utilization of precision medicine. We sent a genetic test on patients with atypical presentation of common kidney diseases, electrolytes derangements, and cystic kidney diseases. We were able to identify a gene variant contributing to patients' kidney disease in more than half of our cohort. We then showed that patients with ApoL1 risk allele have likely worse kidney disease, and we were able to confirm genetic focal segmental glomerulosclerosis (FSGS) in 2 patients and avoid unnecessary immunosuppression. Genetic testing has also improved our operation to establish a polycystic kidney disease excellence center by confirming our diagnosis, especially in patients without a well-defined family history. In conclusion, utilizing genetic testing in a routine outpatient renal clinic did not cause any burden to either patients or nephrologists, with minimal administrative effort and no financial cost to our patients. We expect that genetic testing in the right setting should become routine in nephrology to achieve a patient-centered precision medicine with less invasive means of kidney disease diagnosis.
将基因检测纳入肾脏内科常规门诊,可改善慢性肾脏病(CKD)的诊断和精准医疗的应用。我们对常见肾病、电解质紊乱和囊性肾病的非典型表现患者进行了基因检测。我们能够在半数以上的患者中发现导致肾病的基因变异。然后,我们发现具有载脂蛋白 L1 危险等位基因的患者肾病可能更严重,我们还确认了两名患者的遗传性局灶节段性肾小球硬化症(FSGS),避免了不必要的免疫抑制。基因检测还通过确诊改善了我们建立多囊肾病卓越中心的工作,尤其是对没有明确家族史的患者。总之,在常规肾病门诊中使用基因检测不会给患者或肾病专家造成任何负担,只需花费极少的行政精力,患者也无需支付任何费用。我们希望,在适当的环境下进行基因检测应成为肾脏病学的常规工作,以实现以患者为中心的精准医疗,同时减少肾脏疾病诊断的侵入性手段。
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引用次数: 0
期刊
Clinical nephrology
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