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Impact of Age-3 Urine Screening on Diagnosis and Treatment Timing in Alport Syndrome 3岁尿液筛查对Alport综合征诊断和治疗时机的影响

IF 5.7 2区医学 Q1 UROLOGY & NEPHROLOGY

Kidney International Reports

Pub Date : 2025-12-01 DOI: 10.1016/j.ekir.2025.09.022

Hideaki Kitakado , Shingo Ishimori , Shuhei Aoyama , Yuka Kimura , Yuta Inoki , Chika Ueda , Yu Tanaka , Tomoko Horinouchi , Tomohiko Yamamura , Nana Sakakibara , China Nagano , Kandai Nozu

Introduction

Alport syndrome is an inherited kidney disease that leads to end-stage kidney disease (ESKD) due to pathogenic variants in COL4A3/4/5, which encode type IV collagen. Promptly identifying patients with Alport syndrome and starting treatment with a renin–angiotensin system inhibitor (RAS-I) is important for delaying progression to ESKD. In Japan, public urine screening is available for all children aged 3 years.

Methods

Patients genetically diagnosed with Alport syndrome at our department between August 2015 and May 2024, who were aged ≤ 18 years, were included in the study. We evaluated their clinical and genetic characteristics and identified the circumstances under which abnormal urine findings were first detected, with a focus on the role of urine screening at the age of 3 years (age-3 urine screening).

Results

A total of 356 patients with Alport syndrome were eligible for this study. The most common setting for detecting urine abnormalities for the first time was during age-3 urine screening (n = 113, 31.7%). The inherited forms were as follows: X-linked (XL) female (43.3%), XL male (30.1%), autosomal dominant (AD) (19.5%), and autosomal recessive (AR) (6.2%) Alport syndrome. In addition, 60.2% of these patients already met the criteria for RAS-I treatment at the time of urine screening.

Discussion

Our study showed that approximately 30% of patients with Alport syndrome had the opportunity to be diagnosed through age-3 urine screening, and among them, more than half were already eligible for RAS-I treatment. Urine screening may be an optimal method for contributing to a delay in the progression to ESKD in patients with Alport syndrome.

alport综合征是一种遗传性肾脏疾病，由于编码IV型胶原蛋白的COL4A3/4/5致病性变异导致终末期肾脏疾病（ESKD）。及时识别Alport综合征患者并开始使用肾素-血管紧张素系统抑制剂（RAS-I）治疗对于延缓ESKD进展非常重要。在日本，所有3岁儿童都可以进行公共尿液检查。方法选取2015年8月至2024年5月在我科就诊的年龄≤18岁遗传诊断为Alport综合征的患者作为研究对象。我们评估了他们的临床和遗传特征，并确定了首次发现异常尿液的情况，重点关注3岁时尿液筛查的作用（3岁尿液筛查）。结果共有356例Alport综合征患者符合本研究的条件。首次发现尿液异常的最常见情况是在3岁尿液筛查期间（n = 113, 31.7%）。遗传形式为：x连锁（XL）型女性（43.3%）、XL型男性（30.1%）、常染色体显性（AD）型（19.5%）、常染色体隐性（AR）型（6.2%）。此外，60.2%的患者在尿液筛查时已经符合RAS-I治疗标准。我们的研究表明，大约30%的Alport综合征患者有机会通过3岁尿液筛查被诊断出来，其中一半以上的患者已经符合RAS-I治疗的条件。尿液筛查可能是延迟Alport综合征患者进展为ESKD的最佳方法。

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引用次数: 0

Barriers to and Facilitators of Phosphate Control in Children With CKD CKD儿童磷酸盐控制的障碍和促进因素

IF 5.7 2区医学 Q1 UROLOGY & NEPHROLOGY

Kidney International Reports

Pub Date : 2025-12-01 DOI: 10.1016/j.ekir.2025.09.045

Louise McAlister , Vanessa Shaw , Pearl Pugh , Triona Joyce , Evelien Snauwaert , Fionna Bathgate , Charlotte Holt , Caroline Anderson , An Desloovere , José Renken-Terhaerdt , Maria Rosa Grassi , Sevcan Bakkaloğlu , Gulsah Sahin , Rukshana Shroff , Kelly Lambert

Introduction

Managing mineral and bone disorder in children with chronic kidney disease (CKD) requires control of serum phosphate levels. However, hyperphosphatemia is common, particularly in adolescents, reflecting suboptimal adherence to phosphate-binder medications and a reduced phosphate diet. We explored phosphate-related knowledge and adherence barriers in children, and their caregivers, using a sequential explanatory mixed-methods study design.

Methods

Children aged 8 to 18 years with CKD stages 4 and 5, on dialysis or post-transplantation, and caregivers, were recruited from 3 UK pediatric kidney centers. The Phosphate Understanding and Knowledge Assessment questionnaire was used to assess knowledge. Online focus groups explored real-world challenges to phosphate control.

Results

Forty-eight children and 43 caregivers were recruited; 44 (92%) children and 33 (75%) caregivers completed the questionnaire. Median knowledge scores were 64.3% (interquartile range, 55.3–78.6) for children and 72.7% (interquartile range, 64.3–85.7) for caregivers (P = 0.04). Older children scored higher (P = 0.01, R² = 0.13), but knowledge did not correlate with serum phosphate. Dietary restriction was perceived as more challenging than using phosphate-binders (59% children; 71% caregivers). Forty-six participants, including 30 child-caregiver dyads, joined focus groups. The following 5 themes were identified encapsulating the experiences of families: practical advice and support are valued; personalized strategies are preferred to facilitate sense-making; the social environment of the child and family is disrupted; education and self-management skills can influence success; and the journey requires acceptance, adaptation, and perseverance.

Conclusions

In pediatric CKD, poor adherence to phosphate advice originates more from social and practical barriers than knowledge deficits. Our findings can inform personalized strategies to improve adherence in real-world settings.

治疗慢性肾脏疾病（CKD）患儿的矿物质和骨骼紊乱需要控制血清磷酸盐水平。然而，高磷血症很常见，特别是在青少年中，这反映了对磷酸盐结合剂药物和减少磷酸盐饮食的不理想依从性。我们采用顺序解释性混合方法研究设计，探讨了儿童及其照顾者中与磷酸盐相关的知识和依从性障碍。方法从英国3个儿科肾脏中心招募年龄在8 - 18岁的CKD 4期和5期、透析或移植后的儿童及其护理人员。采用磷酸盐理解与知识评估问卷进行知识评估。在线焦点小组探讨了现实世界中磷酸盐控制的挑战。结果共纳入48名儿童和43名护理人员；44名（92%）儿童和33名（75%）看护人完成了问卷。儿童的知识得分中位数为64.3%（四分位数范围为55.3 ~ 78.6），照顾者的知识得分中位数为72.7%（四分位数范围为64.3 ~ 85.7）（P = 0.04）。年龄较大的儿童得分较高（P = 0.01, R2 = 0.13），但知识与血清磷酸盐无关。饮食限制被认为比使用磷酸盐粘合剂更具挑战性（59%的儿童；71%的看护人）。46名参与者，包括30对照顾孩子的夫妇，加入了焦点小组。确定了以下5个主题，概括了家庭的经验：重视实际的建议和支持；个性化策略是促进意义形成的首选；儿童和家庭的社会环境被破坏；教育和自我管理技能可以影响成功；这段旅程需要接受、适应和坚持。结论：在儿童CKD中，磷酸盐建议依从性较差的主要原因是社会和实践障碍，而不是知识缺陷。我们的研究结果可以为个性化策略提供信息，以提高现实环境中的依从性。

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引用次数: 0

Reduced Access to Second Kidney Transplantation Among Adolescent Girls 少女接受第二次肾移植的机会减少

IF 5.7 2区医学 Q1 UROLOGY & NEPHROLOGY

Kidney International Reports

Pub Date : 2025-12-01 DOI: 10.1016/j.ekir.2025.09.015

Alexandra C. Bicki , Sang M. Nguyen , Gabriela Accetta Rojas , David V. Glidden , Barbara Grimes , Elaine Ku

引用次数: 0

Frailty Matters—But Contextualize the Clinical Decision 虚弱很重要——但要将临床决策置于环境中

IF 5.7 2区医学 Q1 UROLOGY & NEPHROLOGY

Kidney International Reports

Pub Date : 2025-12-01 DOI: 10.1016/j.ekir.2025.10.006

Krithika Mohan , Kenneth J. Woodside

引用次数: 0

From Variant of Uncertain Significance to Likely Pathogenic: Adult-Onset Nephronophthisis Linked to NPHP4 p.T680M 从意义不确定的变异到可能致病：与NPHP4 p.T680M相关的成人肾病

IF 5.7 2区医学 Q1 UROLOGY & NEPHROLOGY

Kidney International Reports

Pub Date : 2025-12-01 DOI: 10.1016/j.ekir.2025.09.052

Neriman Sıla Koç

引用次数: 0

Central Nervous System Iron Content in Pediatric CKD 小儿慢性肾病的中枢神经系统铁含量

IF 5.7 2区医学 Q1 UROLOGY & NEPHROLOGY

Kidney International Reports

Pub Date : 2025-12-01 DOI: 10.1016/j.ekir.2025.09.012

Emily J.S. Steinbach , Lucas D.G. Barrett , Chu-Yu Lee , McKade A. Poirier , Diana Zepeda-Orozco , Diana I. Jalal , Janice M.R. Staber , Levi P. Sowers , Vincent A. Magnotta , Ellen van der Plas , Lyndsay A. Harshman

引用次数: 0

Response to the Letter to the Editor Entitled “From Variant of Unknown Significance to Likely Pathogenic: Adult-Onset - Nephronophthisis Linked to NPHP4 p.T680M” 对题为“从未知意义的变异到可能致病：与NPHP4 p.T680M有关的成人肾病”的致编辑信的回应

IF 5.7 2区医学 Q1 UROLOGY & NEPHROLOGY

Kidney International Reports

Pub Date : 2025-12-01 DOI: 10.1016/j.ekir.2025.10.003

Jens Christian König , Mareike Dahmer-Heath , Martin Konrad

引用次数: 0

Randomized Trial of Twice-Weekly Versus Thrice-Weekly Hemodiafiltration for Initiation of Renal Replacement Therapy 每周两次与每周三次血液滤过开始肾脏替代治疗的随机试验

IF 5.7 2区医学 Q1 UROLOGY & NEPHROLOGY

Kidney International Reports

Pub Date : 2025-12-01 DOI: 10.1016/j.ekir.2025.09.048

Milagros Fernández Lucas , Alfonso Muriel , Nuria Rodríguez Mendiola , Jose Luis Merino , Andrea Collado , Martha Elizabeth Díaz Domínguez , Gloria Ruíz-Roso , Rafáel Sánchez , Jose Antonio Herrero , Hanane Bouarich , Virginia López de la Manzanara , Javier Zamora

Introduction

This study presents the first randomized controlled trial (RCT) comparing incremental hemodiafiltration (HDF) (i-HDF), beginning with twice-weekly sessions, to conventional thrice-weekly HDF (c-HDF) in incident dialysis patients with preserved residual kidney function (RKF): urea clearance (KrU) ≥ 2.5 ml/min.

Methods

In this multicenter, open-label trial, 150 patients were randomized 1:1 to either i-HDF (n = 77) or c-HDF (n = 73), regardless of comorbidity burden. The primary outcome was the decline in glomerular filtration rate (GFR) over 12 months. Secondary outcomes included changes in RKF (measured by 24-hour urine output, KrU, and creatinine clearance [KrCr]), incidence of anuria, hospital admissions, mortality, quality of life (using the Kidney Disease Quality of Life-36), and the total number of HDF sessions.

Results

No significant differences were found between groups in GFR decline, RKF parameters, or clinical outcomes such as hospitalizations, mortality, or anuria (5 cases in i-HDF vs. 4 in c-HDF). At 6 months, the i-HDF group reported slight improvements in quality of life, particularly in disease burden domains, though these gains diminished by 12 months. Fifteen patients in the i-HDF group transitioned to thrice-weekly HDF after an average of 193 days, and none refused the increase in frequency when indicated. The i-HDF group received significantly fewer dialysis sessions annually (69.1 vs. 122.6).

Conclusion

Incremental HDF is a safe and effective option for patients with preserved RKF, offering similar clinical outcomes to conventional schedules, with modest short-term quality-of-life benefits and substantial resource savings. Further trials are needed to validate these findings and assess patient preferences and cost-effectiveness.

本研究提出了第一个随机对照试验（RCT），比较了保留残余肾功能（RKF）的事件透析患者的增量血液滤过（HDF）（i-HDF）（从每周两次开始）和常规每周三次的HDF (c-HDF)：尿素清除率(KrU)≥2.5 ml/min。方法在这项多中心、开放标签的试验中，150名患者被1:1随机分配到i-HDF （n = 77）或c-HDF (n = 73)，无论合并症负担如何。主要终点是12个月内肾小球滤过率（GFR）的下降。次要结局包括RKF（通过24小时尿量、KrU和肌酐清除率[KrCr]测量）、无尿发生率、住院率、死亡率、生活质量（使用肾脏疾病生活质量36）和HDF总次数的变化。结果两组在GFR下降、RKF参数或住院、死亡率或无尿等临床结果方面无显著差异（i-HDF组5例，c-HDF组4例）。在6个月时，i-HDF组报告生活质量略有改善，特别是在疾病负担领域，尽管这些改善在12个月后减少。i-HDF组中有15名患者在平均193天后转变为每周三次HDF，并且没有人拒绝在指示时增加频率。i-HDF组每年透析次数明显减少（69.1次对122.6次）。结论渐进式HDF对于保留RKF患者是一种安全有效的选择，提供与传统方案相似的临床结果，具有适度的短期生活质量改善和大量的资源节约。需要进一步的试验来验证这些发现，并评估患者的偏好和成本效益。

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引用次数: 0

Estimating Glomerular Filtration Rate in Young Persons With Obesity or Diabetes and Hyperfiltration 估计肥胖或糖尿病和高滤过的年轻人肾小球滤过率

IF 5.7 2区医学 Q1 UROLOGY & NEPHROLOGY

Kidney International Reports

Pub Date : 2025-12-01 DOI: 10.1016/j.ekir.2025.09.028

Nathan J. Bekelman , Laura Pyle , Ye Ji Choi , Hailey E. Hampson , Phoom Narongkiatikhun , Jairo A. Pinzón Cortés , Kalie L. Tommerdahl , Petter Bjornstad

引用次数: 0

Incidence of Immune Checkpoint Inhibitor–Associated Renal Tubular Acidosis 免疫检查点抑制剂相关肾小管酸中毒的发生率

IF 5.7 2区医学 Q1 UROLOGY & NEPHROLOGY

Kidney International Reports

Pub Date : 2025-12-01 DOI: 10.1016/j.ekir.2025.09.023

Chintan V. Shah , Erin M. Kim , Akash Mathavan , Akshay Mathavan , Nikita Shah , Maria Ilyas , Jacqueline Nguyen , I. David Weiner

引用次数: 0

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