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Primary hyperoxaluria: results of a retrospective survey of the diagnostic practices of nephrologists 原发性高草酸尿症:肾病专家诊断方法回顾性调查的结果
Pub Date : 2024-10-01 DOI: 10.1684/ndt.2024.93
Sandrine Lemoine, Alexia Bakdache, Gabriel Choukroun

Introduction: Primary hyperoxalurias (PH) are rare and serious genetic diseases. Their prognosis is improved with early medical management. However, diagnosis often occurs at the end-stage of renal failure. To understand this delay, collecting real-world data on the clinical practices of nephrologists may be helpful.

Materials and methods: Between October 2021 and October 2022, a retrospective survey was conducted in France among 76 nephrologists to assess management practices for patients with chronic kidney disease (CKD) of unknown aetiology, associated with urinary lithiasis and/or nephrocalcinosis. Data on patient profiles, tests conducted, diagnoses considered, and management of suspected PH cases were collected.

Results: 97% of patients (n = 386/400) underwent a renal examination, 92% (n = 370/400) a thorough urinary check-up, and 65% (n = 260/400) had an interpretable oxaluria value from a 24-hour urine sample (Uox24h). Of these 260 patients, 50% (n = 130/260) had Uox24h > 500 µmol/24 h: 23% (n = 30/130) were suspected of PH by the nephrologists, and 15% (n = 19/130) were referred for genotyping. Considering all criteria, 52 patients were suspected of PH (42% of whom did not have Uox24h > 500 µmol/24 h), and 33% (n = 17/52) were not referred for genotyping.

Discussion: The survey highlights nephrologists' adherence to recommendations for prescribing biological tests. However, in cases of hyperoxaluria or suspected PH, genotyping was not always prescribed. The barriers to this prescription need further exploration.

简介原发性高氧血症(PH)是一种罕见的严重遗传性疾病。早期治疗可改善其预后。然而,诊断往往发生在肾衰竭晚期。要了解这种延误,收集肾科医生临床实践的真实数据可能会有所帮助:2021 年 10 月至 2022 年 10 月期间,在法国对 76 名肾科医生进行了一项回顾性调查,以评估对病因不明、伴有尿路结石和/或肾钙化的慢性肾病 (CKD) 患者的管理方法。收集的数据包括患者概况、所做检查、考虑的诊断以及对疑似 PH 病例的处理:97%的患者(n = 386/400)进行了肾脏检查,92%的患者(n = 370/400)进行了全面的泌尿系统检查,65%的患者(n = 260/400)通过 24 小时尿样(Uox24h)获得了可解释的草酸尿值。在这 260 名患者中,50%(n = 130/260)的 Uox24h > 500 µmol/24 h:23%(n = 30/130)的患者被肾病专家怀疑患有 PH,15%(n = 19/130)的患者被转诊进行基因分型。考虑到所有标准,52 名患者被怀疑患有 PH(其中 42% 的患者 Uox24h > 500 µmol/24 h),33%(n = 17/52)的患者未转诊进行基因分型:讨论:该调查强调了肾科医生对生物检测处方建议的遵守情况。然而,在高草酸尿症或疑似 PH 的病例中,并不总是开具基因分型处方。需要进一步探讨开具这种处方的障碍。
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引用次数: 0
Acute immuno-allergic tubulo-interstitial nephritis due to amoxicillin confirmed by rechallenge 通过再挑战确认阿莫西林引起的急性免疫过敏性肾小管间质性肾炎
Pub Date : 2024-10-01 DOI: 10.1684/ndt.2024.92
Laure Mondo, Amira Bendjama, Maxime Taghavi, Evelyne Maillart, Lucie Bienfait, Marie-Dominique Gazagnes, Philippe Clevenbergh

Acute kidney injury is a common drug adverse reaction and may concerned antibiotics. We report a case of an acute renal failure due to amoxicillin occurring twice in the same patient. Two mechanisms have been described for amoxicillin, with an immuno-allergic origin observed in our case. The diagnosis, supported by kidney biopsy, was confirmed by rechallenge with this patient.

急性肾损伤是一种常见的药物不良反应,可能与抗生素有关。我们报告了一例因阿莫西林导致急性肾衰竭的病例,该病例在同一患者身上发生了两次。阿莫西林引起急性肾衰竭的机制有两种,在我们的病例中观察到的是免疫过敏。肾活检证实了这一诊断,并通过对该患者的再次挑战得到了证实。
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引用次数: 0
Primary hyperoxaluria: results of a retrospective survey of the diagnostic practices of nephrologists 原发性高血氧症:肾病学家诊断实践的回顾性调查结果
Pub Date : 2024-10-01 DOI: 10.1684/ndt.2024.93
Sandrine Lemoine, Alexia Bakdache, Gabriel Choukroun

Introduction: Primary hyperoxalurias (PH) are rare and serious genetic diseases. Their prognosis is improved with early medical management. However, diagnosis often occurs at the end-stage of renal failure. To understand this delay, collecting real-world data on the clinical practices of nephrologists may be helpful.

Materials and methods: Between October 2021 and October 2022, a retrospective survey was conducted in France among 76 nephrologists to assess management practices for patients with chronic kidney disease (CKD) of unknown aetiology, associated with urinary lithiasis and/or nephrocalcinosis. Data on patient profiles, tests conducted, diagnoses considered, and management of suspected PH cases were collected.

Results: 97% of patients (n = 386/400) underwent a renal examination, 92% (n = 370/400) a thorough urinary check-up, and 65% (n = 260/400) had an interpretable oxaluria value from a 24-hour urine sample (Uox24h). Of these 260 patients, 50% (n = 130/260) had Uox24h > 500 µmol/24 h: 23% (n = 30/130) were suspected of PH by the nephrologists, and 15% (n = 19/130) were referred for genotyping. Considering all criteria, 52 patients were suspected of PH (42% of whom did not have Uox24h > 500 µmol/24 h), and 33% (n = 17/52) were not referred for genotyping.

Discussion: The survey highlights nephrologists' adherence to recommendations for prescribing biological tests. However, in cases of hyperoxaluria or suspected PH, genotyping was not always prescribed. The barriers to this prescription need further exploration.

原发性高尿酸血症(PH)是一种罕见而严重的遗传性疾病。早期治疗可改善预后。然而,诊断往往发生在肾衰竭的终末期。为了理解这种延迟,收集肾脏学家临床实践的真实数据可能会有所帮助。材料和方法:在2021年10月至2022年10月期间,在法国对76名肾病学家进行了一项回顾性调查,以评估与尿石症和/或肾钙质沉着症相关的不明原因慢性肾病(CKD)患者的管理实践。收集了患者概况、进行的检查、考虑的诊断和疑似PH病例的管理数据。结果:97%的患者(n = 386/400)进行了肾脏检查,92% (n = 370/400)进行了彻底的尿液检查,65% (n = 260/400)的24小时尿液样本(Uox24h)有可解释的草酸尿值。在这260例患者中,50% (n = 130/260)的Uox24h浓度为500µmol/24 h; 23% (n = 30/130)被肾病学家怀疑为PH, 15% (n = 19/130)被转诊进行基因分型。考虑到所有标准,52例患者疑似PH(其中42%没有Uox24h浓度低于500µmol/24 h), 33% (n = 17/52)未进行基因分型。讨论:该调查强调了肾病学家对处方生物测试建议的依从性。然而,在高草酸尿或怀疑PH的情况下,基因分型并不总是规定的。这一处方的障碍需要进一步探索。
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引用次数: 0
Association between iron deficiency and risk of major events in chronic kidney disease 缺铁与慢性肾脏疾病主要事件风险之间的关系
Pub Date : 2024-10-01 DOI: 10.1684/ndt.2024.91
Gabriel Choukroun, Yasmine Baghdadi, Pascaline Rabiéga, Elise Cazaubon, Serge Maillet, Luc Frimat, Bénédicte Stengel

Introduction: Iron deficiency (ID) is common in patients with chronic kidney disease (CKD) but remains under-diagnosed and its prognosis poorly documented in the absence of anemia. The aim of the study was to assess the relationship between ID and the risk of major adverse outcomes in patients with CKD.

Methods: Using data from the French Chronic Kidney Disease - Renal Epidemiology and Information Network (CKD-REIN) cohort which included and followed over five years, 3,033 patients with CKD stages 2 to 5 CKD, we estimated the prevalence of ID, defined by a ferritin level < 100 μg/L and/or a transferrin saturation < 20%, and associated hazard ratios (HR) of kidney failure with replacement therapy, kidney failure defined by an eGFR < 15 mL/min per 1.73 m2 or initiation of kidney replacement therapy, all-cause mortality, and death or hospitalization for heart failure.

Results: Baseline prevalence of ID in the cohort (66% men; mean age 67 ± 13 years) was 50% (48-52). Mean hemoglobin was 13 ± 1.7 g/dL, and only 31% of patients with ID also had a hemoglobin < 12 g/dL. In 2,803 patients with CKD stages 2-4 at baseline, ID was associated with significant increased risk of kidney failure, and of kidney failure with replacement therapy, with HRs adjusted for confounders and hemoglobin level of 1.22 (1.03-1.45) and 1.57 (1.27-1.94), respectively. Adjusted HRs for all-cause mortality and hospitalization or death for heart failure, were 1.31 (1.04-1.66) and 1.38 (1.07-1.80), respectively.

Conclusion: This study shows that ID is significantly associated with the risk for kidney failure, all-cause mortality, and heart failure, independent of the presence of anemia.

铁缺乏(ID)在慢性肾脏疾病(CKD)患者中很常见,但在没有贫血的情况下仍未得到充分诊断,其预后记录也很差。该研究的目的是评估慢性肾病患者ID与主要不良结局风险之间的关系。方法:使用数据从法国慢性肾病,肾流行病学和信息网络(CKD-REIN)队列包括在五年之后,3033年2至5 CKD CKD患者阶段,我们估计的患病率ID,由铁蛋白水平定义< 100μg / L和/或转铁蛋白饱和度< 20%,相关风险比率(人力资源)与替代治疗肾衰竭,肾衰竭定义为一个eGFR < 15毫升/每分钟1.73平方米或启动肾脏替代疗法,全因死亡率以及因心力衰竭死亡或住院。结果:队列中ID的基线患病率(男性66%;平均年龄(67±13岁)占50%(48 ~ 52岁)。平均血红蛋白为13±1.7 g/dL,只有31%的ID患者血红蛋白< 12 g/dL。在2,803例基线时CKD 2-4期患者中,ID与肾衰竭和替代治疗肾衰竭的风险显著增加相关,经混杂因素和血红蛋白水平调整的hr分别为1.22(1.03-1.45)和1.57(1.27-1.94)。全因死亡率和心力衰竭住院或死亡的调整hr分别为1.31(1.04-1.66)和1.38(1.07-1.80)。结论:这项研究表明,ID与肾衰竭、全因死亡率和心力衰竭的风险显著相关,与贫血的存在无关。
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引用次数: 0
LUMIDIAL: feasibility of light therapy in hemodialysis, pilot study and real-life experience LUMIDIAL:光疗法在血液透析中的可行性,初步研究和现实生活经验
Pub Date : 2024-10-01 DOI: 10.1684/ndt.2024.94
Benoit Franko, Marianne Jund, Cécile Herlet, Violaine Delsante, Lucas Pires, Anne-Laure Claudel, Tristan Delory

Introduction: Sleep and mood disorders are common in hemodialysis, but the effect of light therapy remains unknown in this population.

Methods: We conducted a randomized, controlled, open-label pilot trial comparing two group of either 30 minutes of light therapy three times a week, or no exposure. The primary endpoint was change in sleep quality (PSQI) after five weeks of light therapy, with change in mood (DASS-21) as a secondary endpoint. We added the description of the same criteria in a prospective, non-randomized, real-life post-trial cohort.

Study results: We included 28 analyzable patients in the pilot study. Light therapy had no significant effect on PSQI reduction (p = 0.496). There was a trend towards a reduction in depression (-6.2 [95% CI, -12.5 to -0.05], p = 0.058). In the real-life cohort, out of 27 patients, 12 had a significant reduction in depression score (≥ 6 points).

Discussion: Light therapy performed in hemodialysis three times a week appears to have no effect on sleep quality, but could reduce depressive states. The technique is easy to implement, well tolerated and inexpensive. A multicenter randomized trial against the sham device will be needed to validate its effect on depression.

睡眠和情绪障碍在血液透析患者中很常见,但光疗对这一人群的影响尚不清楚。方法:我们进行了一项随机、对照、开放标签的先导试验,比较两组每周三次30分钟的光疗和不照射的光疗。主要终点是五周光疗后睡眠质量(PSQI)的变化,情绪变化(DASS-21)作为次要终点。我们在一个前瞻性的、非随机的、真实的试验后队列中添加了相同标准的描述。研究结果:我们在初步研究中纳入了28例可分析患者。光疗对PSQI降低无显著影响(p = 0.496)。抑郁症有减少的趋势(-6.2 [95% CI, -12.5至-0.05],p = 0.058)。在现实生活队列中,27名患者中,12名患者抑郁评分显著降低(≥6分)。讨论:血液透析患者每周进行三次光疗似乎对睡眠质量没有影响,但可以减少抑郁状态。该技术易于实现,耐受性好且价格低廉。需要多中心随机试验来验证该假装置对抑郁症的影响。
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引用次数: 0
Posters. 海报。
Pub Date : 2024-09-01 DOI: 10.1684/ndt.2024.90
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引用次数: 0
Communications orales. 通讯口。
Pub Date : 2024-09-01 DOI: 10.1684/ndt.2024.85
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引用次数: 0
Posters commentés. 海报的欧美人。
Pub Date : 2024-09-01 DOI: 10.1684/ndt.2024.89
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引用次数: 0
Malformative uropathies in children: epidemiological, clinical, therapeutic and evolutive aspects in an ivoirian hospital setting 儿童畸形性尿路病变:科特迪瓦医院的流行病学、临床、治疗和演变情况
Pub Date : 2024-08-19 DOI: 10.1684/ndt.2024.88
Emmanuella Bouah-Kamon, Assamala Marielle Sophie Ehile-Kacou, Gnenefoly Diarrassouba, Tanoh Kassi François Eboua, Evelyne Lasme-Guillao

Introduction: Congenital anomalies of the kidney and the urinary tract are a major cause of chronic kidney failure in children. Prevalence in paediatrics varies according to studies. The data being rare in the ivorian context, this study aims to describe these defects' epidemiological, clinical, therapeutic and evolutionary aspects in children in a reference hospital setting.

Methods: We performed a retrospective and descriptive study held in the Yopougon's Teaching Hospital Pediatric Nephrology Unit from December 1st 2008 to December 31st 2020. It involved 152 children aged 0 to 15 years, admitted to the unit, with a congenital anomaly of the kidney and the urinary tract diagnosed with radiology.

Results: Socio-demographic characteristics: congenital anomalies of the kidney and urinary tract's prevalence was 11%. The median age at admission was 36 months. The median age at diagnosis of malformative uropathy was 17.5 months. The sex ratio (M/F) was 2.3. Clinical characteristics: posterior urethra valves were the most common malformative uropathy (38%). Malformative uropathy was associated with other defects in 4% of cases. The antenatal diagnosis involved 24% of patients. The average gestational age of discovery was 32 weeks of amenorrhea. In the postnatal period, abdominal pain was the main circumstance for discovery (39%). Therapeutic characteristics: surgery was indicated in 58% of patients and performed in 64% of cases. Evolutionary characteristics: evolution was better in patients who had received surgical treatment (asymptomatic in 83% of cases, occurrence of urinary tract infection in 35% of cases and chronic renal failure in 23% of cases). 72% of the study population was lost.

Conclusion: In Côte d'Ivoire, malformatives uropathies are late-discovered and are dominated by posterior urethra valves. Knowledge and management of these renal and urinary tract defects deserve to be improved through the development of antenatal diagnosis and training of practitioners in early recognition of clinical signs. The high rate of lost patients must be reduced by the implementation of an active patients' follow-up system.

简介先天性肾脏和泌尿道异常是导致儿童慢性肾衰竭的主要原因。儿科的发病率因研究而异。这些数据在科特迪瓦非常罕见,本研究旨在描述这些缺陷在参考医院儿童中的流行病学、临床、治疗和演变方面的情况:2008年12月1日至2020年12月31日,我们在约普贡教学医院小儿肾脏科进行了一项回顾性和描述性研究。研究涉及152名0至15岁的儿童,他们都是经放射学诊断患有肾脏和泌尿道先天性异常的患者:社会人口特征:肾脏和泌尿道先天性异常的发病率为 11%。入院时的中位年龄为 36 个月。诊断为畸形尿路病变的中位年龄为 17.5 个月。性别比例(男/女)为 2.3。临床特征:后尿道瓣膜是最常见的畸形尿路病变(38%)。畸形尿道病变与其他缺陷相关的病例占 4%。产前诊断涉及 24% 的患者。发现时的平均妊娠年龄为闭经 32 周。产后发现的主要原因是腹痛(39%)。治疗特点:58%的患者有手术指征,64%的病例进行了手术治疗。病情发展特点:接受过手术治疗的患者病情发展较好(83%的病例无症状,35%的病例出现尿路感染,23%的病例出现慢性肾功能衰竭)。72%的研究对象死亡:结论:在科特迪瓦,畸形尿道病发现较晚,主要是后尿道瓣膜病。对这些肾脏和泌尿道缺陷的认识和处理应通过发展产前诊断和培训从业人员早期识别临床症状来加以改进。必须通过实施积极的患者随访制度来降低高流失率。
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引用次数: 0
“Junior Doctors” in Nephrology in France: first feedback 法国肾内科“初级医生”:第一次反馈
Pub Date : 2024-08-01 DOI: 10.1684/ndt.2024.87
Emmanuelle Vial, Mickael Bobot, Jean-Philippe Bertocchio, Charlotte Lohéac, Grégoire Bon, Mathilde Roussel, Paule Chaillet-Poirier, Valentin Maisons

Medical education in France has undergone several major reforms in recent years. In 2017, the reform of the third cycle of medical studies was implemented. This particularly affected nephrology. The reform introduced a new status of “junior doctor”. Its main objective is to ensure the transition from intern to senior doctor.The “Syndicat National des Internes de Néphrologie” (SNIN) conducted a survey to take stock of this new status in our specialty. The respondents were contacted through their city referents.We received 53 completed questionnaires from Nephrology junior-doctors with an average age of 29 years from all over France. The choice of assignment was satisfactory in 93% of cases. The activity of these juniors-doctors was mainly oriented towards clinical nephrology or was mixed, with the possibility of own consultations for almost all residents. The on-call or nightshift activity of the junior-doctors was mainly concentrated in their home department, with only one third of them working as substitute. Their weekly working hours were substantial (mostly between 45 and 65 hours/week), with a significant number exceeding the legal limit. Overall, supervision was considered satisfactory. Very few residents had time for research or theorical-learning, although some gave lessons and received training mainly through conferences. Progress in performing renal biopsies was substantial, in contrast to central venous catheter placement and peritoneal dialysis management, where progress was judged to be weak.

近年来,法国的医学教育经历了几次重大改革。2017年,实施医学专业第三周期改革。这尤其影响到肾脏病学。改革引入了“初级医生”的新地位。其主要目标是确保从实习生到高级医生的过渡。“全国网络通讯协会”(SNIN)进行了一项调查,以评估我们专业的这种新状况。我们通过受访者所在城市的推荐人与他们取得联系。我们收到来自法国各地平均年龄为29岁的初级肾脏病医生的53份完整问卷。在93%的病例中,作业选择是令人满意的。这些初级医生的活动主要面向临床肾脏病学或混合,有可能为几乎所有居民提供自己的咨询。初级医生的随叫随到或夜班活动主要集中在本科,只有三分之一的初级医生从事替代工作。他们每周的工作时间很长(大多数在45至65小时/周之间),有相当一部分人超过了法定限制。总体而言,监管工作令人满意。很少有居民有时间进行研究或理论学习,尽管有些人主要通过会议授课和接受培训。与中心静脉置管和腹膜透析治疗相比,肾活检的进展是实质性的,而后者的进展被认为是微弱的。
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引用次数: 0
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Nephrologie & therapeutique
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