BMC Nephrology最新文献

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Association of insulin resistance with chronic kidney disease in individuals without diabetes in a community population in South China. 中国南方社区人群中无糖尿病个体的胰岛素抵抗与慢性肾脏疾病的关系
IF 2.2 4区 医学
BMC Nephrology Pub Date : 2024-11-30 DOI: 10.1186/s12882-024-03866-7
Jiamin Li, Qin Zhou, Zhen Liu, Hequn Zou
{"title":"Association of insulin resistance with chronic kidney disease in individuals without diabetes in a community population in South China.","authors":"Jiamin Li, Qin Zhou, Zhen Liu, Hequn Zou","doi":"10.1186/s12882-024-03866-7","DOIUrl":"10.1186/s12882-024-03866-7","url":null,"abstract":"<p><strong>Background: </strong>To explore the relationship of insulin resistance (IR) with chronic kidney disease (CKD) in individuals without diabetes.</p><p><strong>Methods: </strong>We performed a cross-sectional survey among 2142 community-based participants without diabetes from southern China from June to October 2012 and excluded the incomplete data. We divided all the participants into four groups according to the quartiles of homeostasis model assessment of IR (HOMA-IR). Logistic regression models were used to explore the associations of IR with CKD in these subjects.</p><p><strong>Results: </strong>In the unadjusted model, compared with the quartile one group, IR was significantly associated with CKD (odds ratio [OR] = 2.24, P < 0.001; OR = 4.46, P < 0.001) in the quartile three and four groups, and the association was still significant (OR = 2.08, P = 0.005; OR = 3.89, P < 0.001 ) after adjusting for potential confounders (including age, current smoker, current alcohol use, physical inactivity, education level, systolic blood pressure, diastolic blood pressure, serum triglyceride, and body mass index). The area under the receiver operating characteristic curve (95% confidence interval) of HOMA-IR for diagnosing CKD was 0.67 (0.64, 0.71). The cut-off value was 2.5, the sensitivity was 75.2%, and the specificity was 56.4%.</p><p><strong>Conclusions: </strong>IR is associated with Chronic Kidney Disease (CKD) in participants without diabetes. It has been proposed that CKD patients may benefit from reducing their insulin resistance.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"25 1","pages":"437"},"PeriodicalIF":2.2,"publicationDate":"2024-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11607959/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142754665","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Acinetobacter ursingii peritonitis in a patient on peritoneal dialysis (PD): case report and literature review. 腹膜透析患者尿singi不动杆菌腹膜炎1例报告并文献复习。
IF 2.2 4区 医学
BMC Nephrology Pub Date : 2024-11-30 DOI: 10.1186/s12882-024-03881-8
R Haridian Sosa Barrios, Reiny S Verastegui Albites, Mariana López Quiroga, Cristina Campillo Trapero, Milagros Fernández Lucas, Maite E Rivera Gorrín
{"title":"Acinetobacter ursingii peritonitis in a patient on peritoneal dialysis (PD): case report and literature review.","authors":"R Haridian Sosa Barrios, Reiny S Verastegui Albites, Mariana López Quiroga, Cristina Campillo Trapero, Milagros Fernández Lucas, Maite E Rivera Gorrín","doi":"10.1186/s12882-024-03881-8","DOIUrl":"10.1186/s12882-024-03881-8","url":null,"abstract":"<p><strong>Background: </strong>Peritonitis is a frequent complication of PD that can lead to technique discontinuation and increase morbidity and mortality. It is caused mainly by gram-positive bacteria (up to 70%); however, gram-negative organisms usually have relatively poor outcomes. Among gram-negative bacteria, Acinetobacter is rare, especially Acinetobacter ursingii.</p><p><strong>Case report: </strong>We report the third case of PD peritonitis caused by Acinetobacter ursingii, treated with directed intraperitoneal antibiotics with good clinical response and favorable outcome.</p><p><strong>Conclusion: </strong>Although Acinetobacter ursingii is rare, it is potentially harmful because of its challenging identification and antibiotic resistance with therapeutic consequences, requiring at least two antibiotics and careful follow up. Keeping in mind that it is ubiquitous, careful technique, training/retraining seems highly recommended.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"25 1","pages":"439"},"PeriodicalIF":2.2,"publicationDate":"2024-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11608458/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142766075","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The impact of PPARγ and ApoE gene polymorphisms on susceptibility to diabetic kidney disease in type 2 diabetes mellitus: a meta-analysis. PPARγ和ApoE基因多态性对2型糖尿病肾病易感性的影响:一项荟萃分析
IF 2.2 4区 医学
BMC Nephrology Pub Date : 2024-11-30 DOI: 10.1186/s12882-024-03859-6
Binura Taurbekova, Kymbat Mukhtarova, Zhandos Salpynov, Kuralay Atageldiyeva, Antonio Sarria-Santamera
{"title":"The impact of PPARγ and ApoE gene polymorphisms on susceptibility to diabetic kidney disease in type 2 diabetes mellitus: a meta-analysis.","authors":"Binura Taurbekova, Kymbat Mukhtarova, Zhandos Salpynov, Kuralay Atageldiyeva, Antonio Sarria-Santamera","doi":"10.1186/s12882-024-03859-6","DOIUrl":"10.1186/s12882-024-03859-6","url":null,"abstract":"<p><strong>Background: </strong>Globally, diabetic kidney disease (DKD) has become the leading cause of end-stage renal disease, imposing substantial social and economic costs. This meta-analysis was designed to provide valuable insights into gene-disease interactions by investigating the potential association between lipid metabolism gene polymorphisms and the risk of DKD.</p><p><strong>Methods: </strong>An electronic literature search was conducted on MEDLINE Complete, Web of Science, Embase, and PubMed. A total of 18 studies on the peroxisome proliferator-activated receptor γ (PPARγ) Pro12Ala variant and 20 publications concerning apolipoprotein E (ApoE) gene polymorphism were included in the meta-analysis.</p><p><strong>Results: </strong>Overall, the PPARγ Pro12Ala polymorphism was found to be significantly associated with a decreased DKD risk (OR = 0.74, 95% CI: 0.62-0.88). In subgroup analysis, Ala carriers were less susceptible to DKD than Pro homozygotes among Asian (OR = 0.73, 95% CI: 0.56-0.95) and Caucasian populations (OR = 0.74, 95% CI: 0.59-0.93). Subgroup analysis stratified by albuminuria categories showed that the PPARγ Pro12Ala polymorphism reduced the risk of both microalbuminuria and macroalbuminuria with corresponding ORs of 0.58 (95% CI: 0.43-0.78) and 0.68 (95% CI: 0.53-0.86). Sensitivity analysis confirmed the robustness of the meta-analysis results. However, publication bias was identified in the subgroup analysis of the Caucasian population. The primary analysis of the ApoE gene polymorphism yielded significant findings, indicating that ApoE ε2/ε2, ApoE ε2/ε3, and ApoE ε2/ε4 genotypes increase the risk of DKD (ε2/ε2 vs. ε3/ε3: OR = 1.93, 95% CI: 1.03-3.61; ε2/ε3 vs. ε3/ε3: OR = 1.63, 95% CI: 1.19-2.25; ε2/ε4 vs. ε3/ε3: OR = 1.87, 95% CI: 1.37-2.55). However, sensitivity analysis suggested that influential and Hardy-Weinberg equilibrium (HWE)-violating studies may impact the overall effect estimates.</p><p><strong>Conclusions: </strong>A meta-analysis showed that PPARγ gene polymorphism may be a protective factor for DKD, whereas the ApoE ε2/ε2, ApoE ε2/ε3, and ApoE ε2/ε4 genotypes are associated with an increased risk of DKD. However, the role of ApoE gene polymorphism in susceptibility to DKD is less certain and requires further evaluation.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"25 1","pages":"436"},"PeriodicalIF":2.2,"publicationDate":"2024-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11607899/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142754668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Relationship between IgM deposition in the mesangial region and the prognosis of IgA nephropathy: a single-centre retrospective study. 系膜区IgM沉积与IgA肾病预后的关系:一项单中心回顾性研究
IF 2.2 4区 医学
BMC Nephrology Pub Date : 2024-11-30 DOI: 10.1186/s12882-024-03880-9
Li Gao, Xuan Zhang, Dongrong Yu, Mengjie Jiang, Can Yu, Xiaohong Li, Qin Zhu
{"title":"Relationship between IgM deposition in the mesangial region and the prognosis of IgA nephropathy: a single-centre retrospective study.","authors":"Li Gao, Xuan Zhang, Dongrong Yu, Mengjie Jiang, Can Yu, Xiaohong Li, Qin Zhu","doi":"10.1186/s12882-024-03880-9","DOIUrl":"10.1186/s12882-024-03880-9","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study was to investigate the prognostic value of mesangial IgM deposition in a long-term follow-up cohort of patients with immunoglobulin A nephropathy (IgAN).</p><p><strong>Methods: </strong>A retrospective analysis of clinicopathological data from 774 patients with primary IgAN at Hangzhou Hospital of Traditional Chinese Medicine between January 1, 2016, and December 31, 2018, was conducted. Patients were categorized into end-event and non-end-event groups according to whether they reached the renal composite endpoint, defined as a ≥ 50% decline in eGFR or progression to end-stage renal disease (ESRD). Risk factors for adverse renal outcomes were evaluated via univariate and multivariate Cox regression models. Patients were further divided into three groups on the basis of IgM deposition levels in the glomerular mesangial area: IgM-negative, low (IF < 2+), and high (IF ≥ 2+). Comparative analyses of clinical and histopathological characteristics, along with treatment regimens, were performed across these groups.</p><p><strong>Results: </strong>Compared with the IgM-negative and low-deposition groups, the high-IgM deposition group exhibited significantly lower serum albumin and eGFR levels and higher cholesterol, 24-hour urine protein, and blood immunoglobulin M levels. Multivariate Cox regression analysis identified immunosuppressant use as an independent protective factor for IgAN prognosis, whereas low serum albumin, T2 lesions, and nephropathological IgM deposits were recognized as independent risk factors for the 5-year prognosis of patients with IgAN. Kaplan‒Meier survival curves revealed that patients with high IgM deposition had markedly poorer prognoses than those with negative or low IgM deposition.</p><p><strong>Conclusion: </strong>In addition to low serum albumin and T2 lesions, IgM deposition in the mesangial region has emerged as an independent risk factor for the 5-year prognosis of patients with IgAN.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"25 1","pages":"438"},"PeriodicalIF":2.2,"publicationDate":"2024-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11607956/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142754667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Major electrolyte disorder and associated factors among patients with chronic disease in Ethiopia: a systematic review and meta-analysis. 埃塞俄比亚慢性疾病患者的主要电解质紊乱及其相关因素:一项系统综述和荟萃分析
IF 2.2 4区 医学
BMC Nephrology Pub Date : 2024-11-29 DOI: 10.1186/s12882-024-03873-8
Worku Chekol Tassew, Yeshiwas Ayale Ferede, Agerie Mengistie Zeleke
{"title":"Major electrolyte disorder and associated factors among patients with chronic disease in Ethiopia: a systematic review and meta-analysis.","authors":"Worku Chekol Tassew, Yeshiwas Ayale Ferede, Agerie Mengistie Zeleke","doi":"10.1186/s12882-024-03873-8","DOIUrl":"10.1186/s12882-024-03873-8","url":null,"abstract":"<p><strong>Background: </strong>Alterations in electrolytes are associated with a number of clinical problems and prompt diagnosis of electrolyte disorder and treatment are crucial in the management of patients with chronic illness. Even though, major electrolyte disorders are common among patients with chronic diseases, the problem were not received enough attention. Thus, the aim of this review was to determine the pooled prevalence and associated factors of major electrolyte disorder among patients with chronic diseases.</p><p><strong>Methods: </strong>The PubMed, Cochrane Library, Science Direct, African Journals Online, and Google Scholar databases were searched by two authors (WCT and YAF) from January 15/2024 to January 22/2024 to identify articles reporting the prevalence of electrolyte disorders in patients with chronic disease in Ethiopia. A random-effects model was used to estimate the pooled prevalence of electrolyte disorder. Important data were extracted with Microsoft Excel and then exported to STATA software version 11 (STATA Corp LLC, TX, USA) for analysis. Cochran's Q test at a significance level of less than 0.05 and the I<sup>2</sup> index were used to examine the statistical heterogeneity among the included studies. A random-effects model was used to estimate the pooled prevalence of major electrolyte disorder due to the presence of heterogeneity.</p><p><strong>Results: </strong>The finding of this review showed that, the pooled estimate of electrolyte disorder among patients with chronic diseases in Ethiopia was found to be 56.66% (95% CI: 44.54, 68.79, P < 0.001). Having no formal education (POR = 7.06, 95% CI = 1.35, 36.98), taking diuretic (POR = 4.41, 95% CI = 1.78, 10.91), patients with anti-diabetic medication (POR = 10.11, 95% CI = 3.45, 29.66), having a body mass index ≥ 30 kg/m<sup>2</sup> (POR = 6.99, 95% CI = 2.01, 5.93) and having uncontrolled blood glucose [POR: 7.09, 95% CI = 5.10-9.80) were factors associated with electrolyte disorders among patients with chronic diseases.</p><p><strong>Conclusion: </strong>This systematic review and meta-analysis revealed that the pooled electrolyte disorders among patients with chronic disease was significant in Ethiopia. Patients who had no formal education, taking diuretic, taking anti-diabetic medication, body mass index ≥ 30 kg/m<sup>2</sup>, alcohol consumption and having high uncontrolled blood glucose were significantly associated with electrolyte disorders. Special emphasis on the status of serum electrolytes should be given for patients with chronic disease in those taking diuretic and anti-diabetic treatments and who are overweight.</p><p><strong>Trial registration: </strong>Prospero registration: CRD42024579411.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"25 1","pages":"435"},"PeriodicalIF":2.2,"publicationDate":"2024-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11606226/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142754666","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Screening for cognitive symptoms in dialysis patients with an extended version of Kidney Disease Quality of Life Cognitive Function subscale (KDQOL-CF): a validation study. 用扩展版肾病生活质量认知功能量表(KDQOL-CF)筛查透析患者的认知症状:一项验证研究
IF 2.2 4区 医学
BMC Nephrology Pub Date : 2024-11-29 DOI: 10.1186/s12882-024-03848-9
Frederick H F Chan, Pearl Sim, Phoebe X H Lim, Behram A Khan, Jason C J Choo, Konstadina Griva
{"title":"Screening for cognitive symptoms in dialysis patients with an extended version of Kidney Disease Quality of Life Cognitive Function subscale (KDQOL-CF): a validation study.","authors":"Frederick H F Chan, Pearl Sim, Phoebe X H Lim, Behram A Khan, Jason C J Choo, Konstadina Griva","doi":"10.1186/s12882-024-03848-9","DOIUrl":"10.1186/s12882-024-03848-9","url":null,"abstract":"<p><strong>Background: </strong>Cognitive impairment and cognitive complaints are highly prevalent in haemodialysis patients and are associated with adverse health outcomes. Currently, there is no established guideline on cognitive screening in this population. Although neuropsychological tests are the gold standard measure of cognition, they are time-consuming and require trained personnel. The Kidney Disease Quality of Life Cognitive Function subscale (KDQOL-CF), a self-administered questionnaire with only three items, may be a feasible alternative for busy renal settings. In this study, we validated an extended version of KDQOL-CF by including an additional memory item (i.e., \"How much of the time during the past four weeks did you have memory difficulties?\") to improve its ability to capture memory impairments that are common in dialysis patients but missing in the original scale.</p><p><strong>Methods: </strong>A total of 268 haemodialysis patients treated in 10 dialysis centres in Singapore completed the extended KDQOL-CF and gold standard measures of objective cognition (Montreal Cognitive Assessment) and subjective cognition (Patient's Assessment of Own Functioning Inventory). Patients also self-reported their functional impairment and treatment nonadherence. Statistical analyses were performed to determine the factor structure and psychometric properties of the extended KDQOL-CF. Receiver operating characteristic curve analyses were conducted to determine the diagnostic ability of the extended KDQOL-CF in identifying objective cognitive impairments and subjective cognitive complaints. Additionally, we examined associations between the extended KDQOL-CF and patients' self-reported functional impairment and treatment nonadherence.</p><p><strong>Results: </strong>The extended KDQOL-CF can be explained by a one-factor model and has good internal consistency and convergent validity. Receiver operating characteristic curve analysis provided support for the diagnostic accuracy of the extended KDQOL-CF in identifying objective cognitive impairments (area under curve = 60.9%) and subjective cognitive complaints (area under curve = 76.2%). The extended KDQOL-CF also performed better than the original KDQOL-CF in predicting functional impairment and treatment nonadherence in the recruited patients.</p><p><strong>Conclusions: </strong>The extended KDQOL-CF may be used as a first-step cognitive screening tool in dialysis settings to offer a gateway for further diagnostic evaluation and preventive or rehabilitative programs.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"25 1","pages":"434"},"PeriodicalIF":2.2,"publicationDate":"2024-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11606010/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142749894","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The outcome of thrombotic microangiopathy in kidney transplant recipients. 肾移植受者血栓性微血管病变的预后。
IF 2.2 4区 医学
BMC Nephrology Pub Date : 2024-11-28 DOI: 10.1186/s12882-024-03846-x
Kanza Haq, Shanshan Lin, Alana Dasgupta, Zainab Obaidi, Serena Bagnasco, Umberto Maggiore, Nada Alachkar
{"title":"The outcome of thrombotic microangiopathy in kidney transplant recipients.","authors":"Kanza Haq, Shanshan Lin, Alana Dasgupta, Zainab Obaidi, Serena Bagnasco, Umberto Maggiore, Nada Alachkar","doi":"10.1186/s12882-024-03846-x","DOIUrl":"10.1186/s12882-024-03846-x","url":null,"abstract":"<p><strong>Background: </strong>The outcome of kidney transplant recipients with a history of complement-mediated thrombotic microangiopathy (cTMA) and those who develop post-transplant de novo TMA (dnTMA) is largely unknown.</p><p><strong>Methods: </strong>We retrospectively studied all kidney transplant recipients with end-stage kidney disease secondary to cTMA and those who developed dnTMA, between Jan 2000 and Dec 2020 in our center.</p><p><strong>Results: </strong>We identified 134 patients, 22 with cTMA and 112 had dnTMA. Patients with cTMA were younger at the time of TMA diagnosis (age at diagnosis, 28.9 ± 16.3. vs 46.5 ± 16.0 years; P < 0.001). T-cell mediated rejection, borderline rejection, and calcineurin inhibitor toxicity were more prevalent in the first kidney transplant biopsy (P < 0.05) in the dnTMA group, and antibody-mediated rejection was more prevalent in anytime-biopsy (P = 0.027). After adjusting for potential confounders, cTMA was associated with a sixfold increase in the hazard of transplant failure during the first-year post-transplant (adjusted hazard ratio (aHR): 6.37 [95%CI: 2.17 to18.68; P = 0.001]; the aHR decreased by 0.87 (95% CI: 0.76 to 0.99: P = 0.033) per year elapsed since transplantation. Long-term allograft survival was similar in both groups.</p><p><strong>Conclusion: </strong>Post kidney transplant TMA is an important cause of poor allograft survival. More studies are needed to enhance our understanding and management of this disorder.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"25 1","pages":"433"},"PeriodicalIF":2.2,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11606107/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142749915","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Co-occurrence of Charcot-Marie-Tooth disease type 1 and glomerulosclerosis in a patient with a de novo INF2 variant. 1例新发INF2变异患者并发1型腓骨肌萎缩症和肾小球硬化
IF 2.2 4区 医学
BMC Nephrology Pub Date : 2024-11-28 DOI: 10.1186/s12882-024-03891-6
Yin Ding, Zejun Wu, Xuanli Tang, Xianfa Li
{"title":"Co-occurrence of Charcot-Marie-Tooth disease type 1 and glomerulosclerosis in a patient with a de novo INF2 variant.","authors":"Yin Ding, Zejun Wu, Xuanli Tang, Xianfa Li","doi":"10.1186/s12882-024-03891-6","DOIUrl":"10.1186/s12882-024-03891-6","url":null,"abstract":"<p><strong>Background: </strong>Renal disease is associated with Charcot-Marie-Tooth disease (CMT), a common inherited neurological disorder. Three forms of CMT have been identified: CMT1 of the demyelinating type, CMT2 of the axonal defect type, and intermediate type (Int-CMT). INF2 is an important target for variants that cause the complex symptoms of focal segmental glomerulosclerosis (FSGS) and CMT.</p><p><strong>Case presentation: </strong>We report the case of a 13-year-old female Chinese patient (born in 2011) with a rare co-occurrence of CMT1 and glomerulosclerosis (GS) (CMT1-GS). The patient presented with slowly progressive gait disorder with unsteadiness during walking, pes cavus, and kyphoscoliosis since the age of 1 year. Electrophysiological studies and brain magnetic resonance imaging revealed demyelinating features consistent with CMT1. At 12 years of age, she was hospitalised for hypertension and dizziness; her serum albumin was 27.9 g/L, serum creatinine was 87 μmol/L, estimated glomerular filtration rate was 88.6 mL/min, and 24-h urine protein was 4.95 g. A renal biopsy showed glomerulosclerosis. Renal function deteriorated further during the follow-up period, and she received a kidney transplant at the age of 13. Whole-exome sequencing identified a de novo heterozygous c.326T > G (p.Met109Arg) variant in exon 2 of INF2. The variant was classified as \"pathogenic\" according to the American College of Medical Genetics and Genomics criteria.</p><p><strong>Conclusions: </strong>We describe a rare clinical phenotype of CMT1-GS associated with a de novo variant of INF2. Our findings expand the phenotypic and genotypic spectrums of INF2-associated disorders.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"25 1","pages":"430"},"PeriodicalIF":2.2,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11603986/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142749766","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Systematic literature review of the diagnosis, prognosis, and treatment of peritoneal dialysis-related infection caused by nontuberculous mycobacteria. 对非结核分枝杆菌引起的腹膜透析相关感染的诊断、预后和治疗进行系统的文献综述。
IF 2.2 4区 医学
BMC Nephrology Pub Date : 2024-11-28 DOI: 10.1186/s12882-024-03841-2
Nozomi Kadota, Kazuhiro Ishikawa, Yuta Kubono, Kasumi Konishi, Takuya Fujimaru, Yugo Ito, Masahiko Nagahama, Fumika Taki, Fujimi Kawai, Nobuyoshi Mori, Masaaki Nakayama
{"title":"Systematic literature review of the diagnosis, prognosis, and treatment of peritoneal dialysis-related infection caused by nontuberculous mycobacteria.","authors":"Nozomi Kadota, Kazuhiro Ishikawa, Yuta Kubono, Kasumi Konishi, Takuya Fujimaru, Yugo Ito, Masahiko Nagahama, Fumika Taki, Fujimi Kawai, Nobuyoshi Mori, Masaaki Nakayama","doi":"10.1186/s12882-024-03841-2","DOIUrl":"10.1186/s12882-024-03841-2","url":null,"abstract":"<p><p>The number of peritoneal dialysis (PD) catheter-related infections and peritonitis caused by nontuberculous mycobacteria (NTM) has been increasing. Nonetheless, the optimal timing for the relocation of the exit site, removal and reinsertion of the PD catheter, prognosis, and duration of antibiotic treatment remain unclear. This literature review aimed to investigate the epidemiology of patient characteristics and evaluate the most effective diagnostic and treatment strategies for PD catheter-related infections and peritonitis caused by NTM. The systematic literature review was conducted on published cases of PD catheter-related infection and peritonitis caused by NTM in PubMed, Embase, and Ichushi databases up to August 2022. A total of 335 cases (64.1%, male; mean age, 53.4 years; mean dialysis duration, 25.4 months) were analyzed. The most common causative agent of infection was Mycobacterium abscessus (40.1%), followed by Mycobacterium fortuitum (24.8%) and Mycobacterium chelonae (16.6%). With respect to diagnosis, 42.9%, 28.1%, and 29.0% of cases were diagnosed as PD catheter-related infection only, peritonitis only, and both, respectively. The initial cultures were positive for NTM only, positive for any other bacteria, and negative for NTM only in 56.5%, 19.8%, and 23.7% of cases, respectively. Ultimately, more than 80% of cases were treated with multiple antibiotics. PD catheter removal was performed in 55.4% of patients with PD catheter-related infections only and 85.5% of those with PD peritonitis. PD continuation or resumption was possible in 62.2% and 16.0% of patients, respectively. In conclusion, our findings indicate that it is advisable to perform acid-fast bacilli stain and culture in order to promptly identify NTM. PD catheter removal may be an essential management strategy during the early stages of NTM infection.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"25 1","pages":"432"},"PeriodicalIF":2.2,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11606208/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142749897","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Correction: The role of age and sex in non-linear dilution adjustment of spot urine arsenic. 修正:年龄和性别在局部尿砷非线性稀释调节中的作用。
IF 2.2 4区 医学
BMC Nephrology Pub Date : 2024-11-28 DOI: 10.1186/s12882-024-03834-1
Thomas Clemens Carmine
{"title":"Correction: The role of age and sex in non-linear dilution adjustment of spot urine arsenic.","authors":"Thomas Clemens Carmine","doi":"10.1186/s12882-024-03834-1","DOIUrl":"10.1186/s12882-024-03834-1","url":null,"abstract":"","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":"25 1","pages":"431"},"PeriodicalIF":2.2,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11606236/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142749891","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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