Pediatric Nephrology最新文献

{"title":"Granulomatous nephropathy: have you thought about genetics?","authors":"Enzo Vedrine, Lucie Bessenay, Carole Philipponnet, Marine Dancer, Aurelia Bertholet-Thomas","doi":"10.1007/s00467-025-06741-1","DOIUrl":"https://doi.org/10.1007/s00467-025-06741-1","url":null,"abstract":"<p><p>We report here the case of a 16-year-old girl with chronic kidney disease, where biopsy revealed tubulointerstitial nephropathy with granulomas. Initial treatments included immunosuppressive therapy unless genetic testing with exome sequencing identified nephronophthisis due to a homozygous deletion of the NPHP1 gene, marking a unique instance of granulomatous nephropathy related to nephronophthisis. With severe kidney damage, her function has not recovered, necessitating peritoneal dialysis and transplantation. This case highlights the need to consider nephronophthisis in inflammatory interstitial and granulomatous nephropathy, especially when it appears severe and early in life. In addition, it underscores the importance of genetic testing for accurate diagnosis and management in pediatric nephropathies.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143657949","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cystic fibrosis-related kidney disease-emerging morbidity and disease modifier.","authors":"Merrill Hart, Manish Kumar, Himanshu Ballav Goswami, William Tom Harris, Sladjana Skopelja-Gardner, Agnieszka Swiatecka-Urban","doi":"10.1007/s00467-025-06715-3","DOIUrl":"https://doi.org/10.1007/s00467-025-06715-3","url":null,"abstract":"<p><p>Cystic fibrosis (CF) is a life-shortening multisystem disease resulting from mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, causing the most devastating phenotypes in the airway and pancreas. Significant advances in treatment for CF lung disease, including the expanded use of high-efficiency modulator therapies (HEMT) such as Trikafta, have dramatically increased both quality of life and life expectancy for people with CF (PwCF). With these advances, long-term extrapulmonary manifestations are more frequently recognized. Pseudo-Barter syndrome, acute kidney injury (AKI) induced by medications or dehydration, amyloidosis, nephrolithiasis, and IgA and diabetic nephropathies have been previously reported in PwCF. Newer data suggest that chronic kidney disease (CKD) is a new morbidity in the aging CF population, affecting 19% of people over age 55. CKD carries a high risk of premature death from cardiovascular complications. Studies suggest that CFTR dysfunction increases kidneys' vulnerability to injury caused by the downstream effects of CF. Improving the mutant CFTR function by HEMT may help to tease apart the kidney responses resulting from extrinsic factors and those intrinsically related to the CFTR gene mutations. Additionally, given the novelty of HEMT approaches, the potential off-target effects of their long-term use are currently unknown. We review the evolving kidney complications in PwCF and propose the term CF-related kidney disease. We hope this review will increase awareness about the changing phenotype of kidney dysfunction in PwCF and help prevent morbidity related to this condition.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143649774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Differences in kidney prognosis between congenital and infantile nephrotic syndrome.","authors":"Yuta Inoki, Tomoko Horinouchi, Shuhei Aoyama, Yuka Kimura, Yuta Ichikawa, Yu Tanaka, Chika Ueda, Hideaki Kitakado, Atsushi Kondo, Nana Sakakibara, Koichi Kamei, Riku Hamada, Naoya Fujita, Yoshimitsu Gotoh, Yoshitsugu Kaku, Kei Nishiyama, Takayuki Okamoto, Yukiko Toya, Tomohiko Yamamura, Shingo Ishimori, China Nagano, Kandai Nozu","doi":"10.1007/s00467-025-06735-z","DOIUrl":"https://doi.org/10.1007/s00467-025-06735-z","url":null,"abstract":"<p><strong>Background: </strong>More than half of patients with congenital nephrotic syndrome (CNS) or infantile nephrotic syndrome (infantile NS) have a monogenic aetiology. This study aimed to clarify differences in the clinical course, genetic background, and genotype-phenotype correlation between CNS and infantile NS.</p><p><strong>Methods: </strong>We enrolled patients who were diagnosed with CNS or infantile NS and referred to our hospital for genetic analysis and investigated the clinical characteristics and genetic background of patients with identified causative genes.</p><p><strong>Results: </strong>Among 74 patients enrolled, disease-causing genetic variants were detected in 50 patients. The median age for developing kidney failure in the genetic CNS (n = 33) and genetic infantile NS (n = 17) groups with monogenic variants was 13.2 and 19.0 months, respectively (P = 0.13). The age at developing kidney failure was significantly earlier in CNS patients with genes other than NPHS1 than in CNS patients with NPHS1 variants (1.0 vs. 31.0 months; P < 0.001). In patients with pathogenic variants other than NPHS1, there was a significant difference in the age at developing kidney failure between CNS and infantile NS patients (1.0 vs. 15.0 months; P < 0.001). Of patients with NPHS1 variants, no infants with NS had any truncating variants or developed kidney failure during follow-up.</p><p><strong>Conclusions: </strong>The onset of CNS or infantile NS affects the kidney prognosis in patients with genetic nephrotic syndrome. Among patients with pathogenic variants in the same gene, patients with infantile NS may have a milder genotype and better prognosis than those with CNS.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143649775","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Additional insights to the IPNA clinical practice recommendations for the diagnosis and management of children with IgA vasculitis nephritis.","authors":"Emre Leventoğlu, Sevcan A Bakkaloğlu","doi":"10.1007/s00467-025-06742-0","DOIUrl":"https://doi.org/10.1007/s00467-025-06742-0","url":null,"abstract":"","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143649770","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Body cell mass estimation by whole body potassium counter and its association with protein energy wasting in Indian children with chronic kidney disease.","authors":"Arpana Iyengar, Rebecca Kuriyan, Sumitra Selvam, Kishor G Bhat, Anil Vasudevan, Anura V Kurpad","doi":"10.1007/s00467-025-06739-9","DOIUrl":"https://doi.org/10.1007/s00467-025-06739-9","url":null,"abstract":"<p><strong>Background: </strong>Body cell mass (BCM) is an ideal indicator of nutritional status that is independent of hydration, when measured by the reference tool whole body potassium counter (WBPC). The WBPC calculates total body potassium (TBK) through naturally occurring intracellular potassium isotope (K₄₀) to derive BCM. This study aimed to standardise the WBPC measurement of BCM in children, assess BCM in children with CKD stages 2-5D, and explore its association with nutritional status of protein energy wasting (PEW).</p><p><strong>Methods: </strong>The WBPC was standardised using differing body size phantoms and Monte Carlo simulations. TBK (kg), BCM (kg) and BCM indexed to height (BCMI) were measured at baseline and twice every 3-6 months in children with CKD 2-5D and compared with healthy controls. PEW was diagnosed using specific criteria.</p><p><strong>Results: </strong>The accuracy and variance of BCM measurement was 97.45% and 1.8%, respectively. Among 74 children studied, mean BCMI (Kg/m) in 74 with CKD 2-5, 38 on dialysis and 50 healthy controls were 4.6 ± 1.2, 4.1 ± 1.0, and 5.1 ± 1.0, respectively. The BCMI was significantly lower in those with CKD 2-5 and dialysis compared to controls [p = 0.011, p < 0.001, respectively]. However, there was no significant difference in BCMI between those with and without PEW in the cohort. The BCMI correlated with body mass index (BMI) in both the groups [CKD 2-5: r = 0.58, p < 0.001; Dialysis: r = 0.51, p = 0.001].</p><p><strong>Conclusion: </strong>Standardized measures of BCM by WBPC showed that it was lower in children with CKD 2-5D compared to controls, independent of PEW status. BMI may potentially serve as a surrogate measure of BCMI in this population.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143649771","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Predictors of hyperkalemia in pediatric patients on dialysis: international prospective observational study.","authors":"Fabio Paglialonga, Rukshana Shroff, Ilona Zagozdzon, Sevcan A Bakkaloglu, Ariane Zaloszyc, Augustina Jankauskiene, Alejandro Cruz Gual, Maria R Grassi, Louise McAlister, Aleksandra Skibiak, Burcu Yazicioglu, Giuseppe Puccio, Francesca Sofia Grassi, Silvia Consolo, Alberto Edefonti","doi":"10.1007/s00467-025-06717-1","DOIUrl":"https://doi.org/10.1007/s00467-025-06717-1","url":null,"abstract":"<p><strong>Background: </strong>Hyperkalemia is an important issue in kidney failure. The aim of the study was to investigate the predictors of hyperkalemia in children receiving maintenance dialysis.</p><p><strong>Methods: </strong>This was an international prospective cross-sectional observational study involving patients < 18 years receiving chronic hemodialysis or peritoneal dialysis. Hyperkalemia was defined as serum potassium (sK⁺) ≥ 5 mEq/L based on the Pediatric Renal Nutrition Taskforce recommendations. We recorded age, dialysis vintage, urine output (24-h urine collection); dietary K⁺, energy, protein and sodium intake (three-day diaries); office blood pressure (BP) in children < 5 years and 24-h ABPM in older patients; biochemistry (creatinine, urea, sodium, bicarbonate, hemoglobin, phosphate, albumin) and antihypertensive drugs.</p><p><strong>Results: </strong>Forty-one patients were enrolled (10 peritoneal dialysis, 31 hemodialysis), median age 13.3 (IQR 10.6-15.8) years; 15 of them (36.6%) showed hyperkalemia, and median sK⁺ was 4.7 (4.4-5.0) mEq/L. Renin-angiotensin-aldosterone system inhibitors (RAASi) were prescribed in 9/15 patients with hyperkalemia (60%) and 7/26 (26.9%) without hyperkalemia (p = 0.04). Patients with hyperkalemia were older and had higher urea and creatinine than those with normal sK⁺. A backward stepwise multivariable model showed that the only predictors of hyperkalemia were age (b = 0.53, p = 0.01), urea (b = 0.02, p = 0.03) and treatment with RAASi (b = 2.75, p = 0.021).</p><p><strong>Conclusions: </strong>While higher age, higher urea levels and treatment with RAASi independently predicted the occurrence of hyperkalemia, K⁺ intake was not associated with sK⁺ in children on dialysis. This emphasizes the importance of considering non-dietary causes of hyperkalemia and considering the bioavailability of K⁺ more than the total dietary K⁺ intake.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143625867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The unique challenges of childhood-onset systemic lupus erythematosus and lupus nephritis patients: a proposed framework for an individualized transitional care plan.","authors":"Thomas Renson, Liz Lightstone, Coziana Ciurtin, Claire Gaymer, Stephen D Marks","doi":"10.1007/s00467-024-06654-5","DOIUrl":"https://doi.org/10.1007/s00467-024-06654-5","url":null,"abstract":"<p><p>Childhood-onset systemic lupus erythematosus (cSLE) is a severe lifelong and life-threatening autoimmune disease with multi-organ involvement. Compared to those with adult-onset disease, cSLE patients have more aggressive disease with a higher prevalence of early lupus nephritis (LN) causing worse kidney and patient outcomes. The transfer of adolescent patients to adult healthcare poses several major challenges, from a disease as well as a psychosocial perspective. Transitional care even in tertiary centers can be heterogenous, suboptimal, and often even non-existent. In this comprehensive review of the literature, we synthesize the obstacles adolescents and young adults (AYA) with systemic lupus erythematosus (SLE) and LN face and how these challenges impact the transfer to adult health care. Finally, we propose a framework for a structured and individually modifiable transitional care plan, tailored to the unique needs of this population and taking into account their social and cultural background. This framework includes suggestions for the timing of the preparatory phase and the transfer itself, the composition of the transitional care team, increasing transition readiness and treatment adherence, and establishing a supportive network of peers. Efficient transitional care will optimize long-term patient outcomes.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143625873","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Measuring and estimating the GFR in children: state of the art in 2025.","authors":"Hans Pottel, George J Schwartz","doi":"10.1007/s00467-025-06724-2","DOIUrl":"https://doi.org/10.1007/s00467-025-06724-2","url":null,"abstract":"<p><p>Glomerular filtration rate (GFR) can be measured directly, or estimated from biomarkers like serum creatinine and cystatin C, or both. Measuring GFR in children is cumbersome, as it requires the intravenous injection of an exogenous filtration marker like iohexol, and several blood samples to determine the concentration-time decay curve. Serum creatinine (SCr) measurement is inexpensive and is part of the routine biochemical blood tests that are commonly requested in daily clinical practice. SCr-based estimated GFR is therefore still the most widely used test to obtain information on kidney function, although SCr varies with age and sex during childhood and GFR remains nearly constant over the 2-18-year age range. These issues are partially resolved by factoring SCr by height, or rescaling SCr by the median of healthy subjects, making interpretation of SCr and eGFR more straightforward. Cystatin C has become an interesting alternative kidney biomarker, and estimating GFR from cystatin C has therefore become more important. The aim of this review is to show recent advances in measuring and estimating GFR in children.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143605988","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Increased kidney length in mild urinary tract dilatation is a significant prognostic factor for non-resolution.","authors":"Shingo Ishimori, Junya Fujimura, Atsushi Nishiyama, Takeshi Morisawa","doi":"10.1007/s00467-025-06733-1","DOIUrl":"https://doi.org/10.1007/s00467-025-06733-1","url":null,"abstract":"<p><strong>Background: </strong>Asymptomatic, mild urinary tract dilatation (UTD) that does not resolve can progress in severity, which suggests the need for continued observation. However, no studies have investigated the factors that contribute to the non-resolution of mild UTD.</p><p><strong>Methods: </strong>We conducted this prospective cohort study of children who were newly diagnosed with mild UTD during the neonatal period from 2013 to 2021. The patients were evaluated by periodic kidney ultrasound until 3 years of age. Sonographic reference values for kidney length were determined according to estimation formulas, and sonographic kidney volume was calculated using kidney length, width, and depth.</p><p><strong>Results: </strong>This pilot study included 33 children with mild UTD, totaling 58 kidney units. The kidney units were graded as UTD P1 in 23 and UTD P2 in 35 units. Sonographic kidney length and volume were significantly higher for kidneys with UTD P2 units that did not resolve over 3 years than in those that resolved at 3 months, 6 months, and 1 year. The time to resolution of UTD P2 units in kidneys with a length of > 0.7 standard deviations at 3 months and > 1.2 standard deviations at 6 months was significantly longer than the time to resolution in kidneys with a length of ≤ 0.7 standard deviations at 3 months (p < 0.01) and ≤ 1.2 standard deviations at 6 months (p = 0.01).</p><p><strong>Conclusions: </strong>Increased sonographic kidney length in UTD P2 is a prognostic factor for non-resolution of mild UTD.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143573383","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reduced kidney function in very-low-birth-weight preterm infants at preschool age.","authors":"Chia-Huei Chen, Jui-Hsing Chang, Chyong-Hsin Hsu, Mary Hsin-Ju Ko, Chia-Ying Lin, Tzu-Hua Lin, Jeng-Daw Tsai, Hung-Yang Chang","doi":"10.1007/s00467-025-06731-3","DOIUrl":"10.1007/s00467-025-06731-3","url":null,"abstract":"<p><strong>Background: </strong>Very-low-birth-weight (VLBW) infants have significant risk factors for adverse health outcomes. Previous studies have focused on neurological, pulmonary, and cardiovascular complications, but the long-term outcomes of other organ functions particularly kidney function warrant further investigation. This prospective study aimed to compare kidney function between VLBW preterm and term infants at 5-6 years of age.</p><p><strong>Methods: </strong>Participants underwent comprehensive assessments of kidney function and blood pressure. Estimated glomerular filtration rates (eGFR) for serum creatinine (Cr) and cystatin C (CysC) were calculated using the CKiD-U25 equations, and comparative analyses conducted between preterm and term groups. In the preterm group, perinatal growth rates of weight and height at various stages were monitored to investigate their potential association with kidney function.</p><p><strong>Results: </strong>A total of 61 VLBW preterm and 40 term children participated in the study. The preterm group exhibited significantly higher serum CysC levels (0.97 vs. 0.87 mg/L, p = 0.001), lower eGFR-CysC (82.3 vs. 93.0 mL/min/1.73 m², p < 0.001), and smaller kidney length compared to the term group. Notably, 72% of VLBW preterm children exhibited abnormal eGFR-CysC levels (< 90 mL/min/1.73 m²). Preterm children exhibited significantly higher systolic and diastolic blood pressures, but growth velocities and perinatal characteristics did not significantly affect kidney function at preschool age.</p><p><strong>Conclusions: </strong>Kidney function may be diminished in VLBW preterm children at preschool age. However, no significant effects of perinatal risk factors or growth on kidney function were observed. These findings underscore the importance of ongoing long-term monitoring of kidney health in this vulnerable population.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143567775","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}