Kidney International Reports最新文献

{"title":"Urine Protein-to-Creatinine Ratio Remains Informative Despite Nonsteady State Serum Creatinine During Acute Kidney Injury.","authors":"Ian E McCoy, Aris Oates, Chi-Yuan Hsu","doi":"10.1016/j.ekir.2024.09.011","DOIUrl":"10.1016/j.ekir.2024.09.011","url":null,"abstract":"<p><strong>Introduction: </strong>Experts have cautioned that assessment of proteinuria using urine protein-to-creatinine ratios (UPCRs) are not valid during acute kidney injury (AKI) because reduced urine creatinine in the denominator may artificially inflate the ratio. However, there is little empiric data assessing this theoretical concern.</p><p><strong>Methods: </strong>Here, we retrospectively examined changes in UPCRs measured during episodes of severe AKI and assessed whether the magnitude and direction of these changes associate with how the serum creatinine level is changing at the time of UPCR collection. We repeated these analyses comparing hospitalization UPCRs with prehospitalization or posthospitalization UPCRs, where available.</p><p><strong>Results: </strong>Among 329 adults hospitalized with stage 2 or 3 AKI (defined as peak:nadir serum creatinine during hospitalization ≥ 2) at the University of California, San Francisco from January 1, 2014 to December 31, 2022 with multiple UPCRs measured during AKI hospitalization, UPCR values were similar whether the serum creatinine was increasing or decreasing at the time of measurement (median difference, 0.06 g/g; interquartile range [IQR], -0.26 to 0.50 g/g). There was no association between the difference in serum creatinine slopes when the UPCRs were collected and the difference in UPCR values (UPCR 0.05 g/g higher per mg/dl/d serum creatinine slope; 95% confidence interval [CI], -0.36 to 0.47, <i>P</i> = 0.80). UPCRs measured during hospitalization demonstrated positive and negative predictive values suggesting utility in appraising clinically relevant outpatient UPCR levels.</p><p><strong>Conclusion: </strong>Despite nonsteady state serum creatinine at the time of collection, UPCRs measured during AKI hospitalizations may be more informative than previously believed and should not be wholly disregarded.</p>","PeriodicalId":17761,"journal":{"name":"Kidney International Reports","volume":"9 12","pages":"3455-3463"},"PeriodicalIF":5.7,"publicationDate":"2024-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11652066/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142854649","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>UMOD</i> Genotype and Determinants of Urinary Uromodulin in African Populations.","authors":"Michél Strauss-Kruger, Eric Olinger, Patrick Hofmann, Ian J Wilson, Carina Mels, Ruan Kruger, Lebo F Gafane-Matemane, John A Sayer, Cristian Ricci, Aletta E Schutte, Olivier Devuyst","doi":"10.1016/j.ekir.2024.09.015","DOIUrl":"10.1016/j.ekir.2024.09.015","url":null,"abstract":"<p><strong>Introduction: </strong>Single-nucleotide polymorphisms (SNPs) in the <i>UMOD</i> <i>-PDILT</i> genetic locus are associated with chronic kidney disease (CKD) in European populations, through their effect on urinary uromodulin (uUMOD) levels. The genetic and nongenetic factors associated with uUMOD in African populations remain unknown.</p><p><strong>Methods: </strong>Clinical parameters, 3 selected <i>UMOD-PDILT</i> SNPs and uUMOD levels were obtained in 1202 young Black and White adults from the African-PREDICT study and 1943 middle aged Black adults from the PURE-NWP-SA study, 2 cross-sectional, observational studies.</p><p><strong>Results: </strong>Absolute uUMOD and uUMOD/creatinine levels were lower in Black participants compared to White participants. The prime CKD-risk allele at rs12917707 was more prevalent in Black individuals, with strikingly more risk allele homozygotes compared to White individuals. Haplotype analysis of the <i>UMOD-PDILT</i> locus predicted more recombination events and linkage disequilibrium (LD) fragmentation in Black individuals. Multivariate testing and sensitivity analysis showed that higher uUMOD/creatinine associated specifically with risk alleles at rs12917707 and rs12446492 in White participants and with higher serum renin and lower urine albumin-to-creatinine ratio in Black participants, with a significant interaction of ethnicity on the relationship between all 3 SNPs and uUMOD/creatinine. The multiple regression model explained a greater percentage of the variance of uUMOD/creatinine in White adults compared to Black adults (23% vs. 8%).</p><p><strong>Conclusion: </strong>We evidenced ethnic differences in clinical and genetic determinants of uUMOD levels, in particular an interaction of ethnicity on the relationship between CKD-risk SNPs and uUMOD. These differences should be considered when analyzing the role of uromodulin in kidney function, interpreting genome-wide association studies (GWAS), and precision medicine recommendations.</p>","PeriodicalId":17761,"journal":{"name":"Kidney International Reports","volume":"9 12","pages":"3477-3489"},"PeriodicalIF":5.7,"publicationDate":"2024-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11652103/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142854656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pilot Trial of Hydroxychloroquine as Add-On Therapy in Patients With Membranous Nephropathy.","authors":"Hongyu Yang, Guangping Sun, Xu Yang, Junjun Luan, Congcong Jiao, Qinglei Song, Feng Du, Beiru Zhang, Yanqiu Wang, Jeffrey B Kopp, Hua Zhou","doi":"10.1016/j.ekir.2024.09.016","DOIUrl":"10.1016/j.ekir.2024.09.016","url":null,"abstract":"<p><strong>Introduction: </strong>Kidney Disease Improving Global Outcomes guidelines indicate that glucocorticoids and immunosuppressants comprise the first therapeutic regimens after 4 to 6 months of treatment for high-risk primary membranous nephropathy (PMN). However, some patients cannot achieve complete or partial remission at 6 months. This study aimed to evaluate the efficacy of traditional immunotherapy combined with hydroxychloroquine (HCQ), a well-known immune regulator, in patients with PMN.</p><p><strong>Methods: </strong>This was a single-center, open-label, prospective study. We recruited 72 patients with nephrotic syndrome and PMN proven by renal biopsy from May 2020 to June 2024. We compared changes in proteinuria, serum albumin levels, estimated glomerular filtration rate (eGFR), and relapse rate at 3, 6, 9, and 12 months follow-up in 41 patients who received glucocorticoid and immunosuppressant, and in 31 who received HCQ plus standard-of-care.</p><p><strong>Results: </strong>Baseline characteristics showed no statistical significance between the 2 groups. However, the HCQ group showed significantly reduced proteinuria compared to standard-of-care group. A reduced proteinuria was seen at 6 months (1.2 [0.4-2.2] vs. 2.2 [1.0-3.8] g/d, <i>P</i> = 0.029) and the relapse rate with 12 months follow-up was also significantly decreased in the HCQ group compared to the standard-of-care group (3.7% vs. 23.3%, <i>P</i> = 0.033).</p><p><strong>Conclusions: </strong>HCQ may serve as an effective add-on therapy for PMN.</p>","PeriodicalId":17761,"journal":{"name":"Kidney International Reports","volume":"9 12","pages":"3446-3454"},"PeriodicalIF":5.7,"publicationDate":"2024-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11652102/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142854413","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prognosis for Type 1 Diabetes with Diabetic Nephropathy between 2000 and 2020 - Changes in Kidney Function Decline Over Time and Development of Cardiovascular Disease, Kidney Failure, and Mortality.","authors":"Christina G Poulsen, Kristin Jesse, Bendix Carstensen, Marie Frimodt-Møller, Tine W Hansen, Frederik Persson, Dorte Vistisen, Peter Rossing","doi":"10.1016/j.ekir.2024.09.010","DOIUrl":"10.1016/j.ekir.2024.09.010","url":null,"abstract":"<p><strong>Introduction: </strong>Individuals with type 1 diabetes (T1D) and diabetic nephropathy (DN) experience progressive kidney function decline and high risk of cardiovascular disease (CVD) and mortality. This study explored changes in kidney function decline in new-onset DN between 2000 and 2020 and provided an updated prognosis for risk of kidney failure, CVD, and mortality.</p><p><strong>Methods: </strong>This is a register-based cohort study in T1D with new-onset DN (severely increased albuminuria) between 2000 and 2020 at Steno Diabetes Center Copenhagen, Denmark. Data were derived from electronic health records and national registers. Kidney function development was expressed as trajectories of estimated glomerular filtration rate (eGFR) and measured GFR (mGFR) using mixed-effects models. The prognosis was presented in probabilities of developing complications, stratified by sex, prior CVD, and risk factor control by using simulations based on Poisson regression analysis.</p><p><strong>Results: </strong>The cohort comprised 591 individuals with median (interquartile range [IQR]) age at DN onset of 53 (39-66) years and 57% were male. In 283 participants, mGFR were available. Plots of eGFR trajectories illustrated tendencies toward higher eGFR in more recent years; however, this was not confirmed in mGFR trajectories. Poor risk factor control, prior CVD, and male sex impacted mortality and morbidity rates negatively. For men and women with fair risk factor control and no prior CVD, the 10-year mortality rate from onset of DN was 28% and 26%, respectively. For men and women with poor risk factor control and CVD prior to DN onset, the 10-year-mortality rate was 62% for each sex.</p><p><strong>Conclusion: </strong>The results do not support an improved prognosis for T1D and DN, emphasizing the urgent need for new therapeutic approaches.</p>","PeriodicalId":17761,"journal":{"name":"Kidney International Reports","volume":"9 12","pages":"3403-3413"},"PeriodicalIF":5.7,"publicationDate":"2024-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11652190/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142854444","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Characterization of a National Cohort of Patients With Germline <i>WT1</i> Variants Including Late-Onset Phenotypes.","authors":"Sophie E van Peer, Roland P Kuiper, Janna A Hol, Sanne Egging, Bert van der Zwaag, Marc R Lilien, M Paola Lombardi, Marry M van den Heuvel-Eibrink, Marjolijn C J Jongmans","doi":"10.1016/j.ekir.2024.09.007","DOIUrl":"10.1016/j.ekir.2024.09.007","url":null,"abstract":"<p><strong>Introduction: </strong><i>WT1</i> disorder is a recently introduced term for phenotypes associated with germline Wilms Tumor 1 (<i>WT1</i>) variants, including glomerulopathy, urogenital anomalies, and Wilms tumor. Previous studies showed a bias toward missense variants in the DNA-binding/Zinc-finger domain of <i>WT1</i> (exon 8 and 9) and patients with early-onset glomerulopathy. Thorough genotype-phenotype correlations including follow-up data on late-onset glomerulopathy risk are lacking. To characterize the genotypic and phenotypic spectrum of <i>WT1</i> disorder, we describe a national cohort of individuals with <i>WT1</i> variants.</p><p><strong>Methods: </strong>We requested clinical and genetic data of all patients with germline <i>WT1</i> variants at all Dutch genetic laboratories.</p><p><strong>Results: </strong>We identified 43 patients with pathogenic <i>WT1</i> variants (truncating, <i>n</i> = 19; missense, <i>n</i> = 13; splice-site, <i>n</i> = 7; and deletions, <i>n</i> = 4). Wilms tumor was the only clinical manifestation in 10 patients, of whom 9 were female. Wilms tumor occurred in 18 of 19 patients with truncating variants, in 4 of 4 patients with deletions, and was rarer in patients with missense or splice-site variants. All patients with missense and 6 of 7 with splice-site variants developed chronic kidney disease (CKD) versus 5 of 19 patients with truncating variants (3 in adulthood, with kidney failure at the age of 24, 26, and 41 years) and 1 of 4 with a deletion. Urogenital malformations occurred predominantly in 46,XY individuals.</p><p><strong>Conclusion: </strong>Among patients with <i>WT1</i> variants, a genotype-phenotype correlation was observed for Wilms tumor risk and age of CKD onset. Although childhood-onset CKD was more common in patients with missense variants in the DNA-binding/Zinc-finger domain, other patients may develop CKD and kidney failure later in life. Therefore, life-long surveillance of kidney function is recommended. Being alert about <i>WT1</i> variants is especially important for girls with Wilms tumor who often miss additional phenotypes.</p>","PeriodicalId":17761,"journal":{"name":"Kidney International Reports","volume":"9 12","pages":"3570-3579"},"PeriodicalIF":5.7,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11652072/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142854162","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Scoping Review of Economic Analyses of Rare Kidney Diseases.","authors":"Blake Angell, Siyuan Wang, Thomas Gadsden, Monica Moorthy, Charu Malik, Jonathan Barratt, Olivier Devuyst, Ifeoma I Ulasi, Daniel P Gale, Agnivo Sengupta, Anna Palagyi, Vivekanand Jha, Stephen Jan","doi":"10.1016/j.ekir.2024.09.004","DOIUrl":"10.1016/j.ekir.2024.09.004","url":null,"abstract":"<p><strong>Introduction: </strong>Rare kidney diseases (RKDs) place a substantial economic burden on patients and health systems, the extent of which is unknown and may be systematically underestimated by health economic techniques. We aimed to investigate the economic burden and cost-effectiveness evidence base for RKDs.</p><p><strong>Methods: </strong>We conducted a systematic scoping review to identify economic evaluations, health technology assessments, and cost-of-illness studies relating to RKDs, published since 2012.</p><p><strong>Results: </strong>A total of 161 published studies, including 66 cost-of-illness studies and 95 economic evaluations; 72 grey literature reports were also included. Most published literature originated from high-income nations, particularly the USA (81 studies), and focused on a handful of diseases, notably renal cell carcinomas (70) and systemic lupus erythematosus (36). Limited evidence was identified from lower-income settings and there were few studies of genetic conditions, which make up most RKDs. Some studies demonstrated the cost-effectiveness of existing treatments; however, there were limited considerations of broader economic impacts on patients that may be important to those with RKDs. Included health technology assessments highlighted difficulties in obtaining high-quality clinical evidence for treatments in very small patient populations, and often considered equity issues and other patient impacts qualitatively alongside clinical and economic evidence in their recommendations.</p><p><strong>Conclusion: </strong>We found large gaps in the economic evidence base for RKDs and limited adaptation of methods to account for the uniqueness of these diseases. There may be significant scope for innovation in building an investment case for RKD treatments, as well as in decision-making processes to inform investment decisions.</p>","PeriodicalId":17761,"journal":{"name":"Kidney International Reports","volume":"9 12","pages":"3553-3569"},"PeriodicalIF":5.7,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11652074/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142854527","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Combination Therapy With Rituximab and Low-Dose Cyclophosphamide and Prednisone in Membranous Nephropathy.","authors":"Coralien H Vink, Jack F M Wetzels, Anne-Els van de Logt","doi":"10.1016/j.ekir.2024.08.033","DOIUrl":"10.1016/j.ekir.2024.08.033","url":null,"abstract":"<p><strong>Introduction: </strong>Standard treatment with cyclophosphamide (CP) or rituximab (RTX) is suboptimal. We adapted and used the low-dose regimen used in vasculitis (RTX 2 × 1000 mg, CP 1.5 mg/kg/d × 8 weeks, and prednisone [i.v. 2 × 1 g + 3 weeks oral starting at 1 mg/kg]).</p><p><strong>Methods: </strong>High-risk, anti-PLA2R antibodies (PLA2Rab)-positive patients with membranous nephropathy (MN) were included in this single-arm prospective cohort study. PLA2Rab levels were regularly measured. We report the PLA2Rab kinetics and overall immunological and clinical remission (CR) rate.</p><p><strong>Results: </strong>We analyzed 26 patients (15 males, aged 57 ± 14 years, PLA2Rab titer 176 [115-460] RU/ml, serum creatinine 128 [102-136] μmol/l, serum albumin 18 [14-21] g/l, and urinary protein-to-creatinine ratio [uPCR] 7.1 [5.7-10] g/10 mmol). Within 8 weeks immunological remission (IR) (enzyme-linked immunosorbent assay < 14 RU/ml) was 88 %. Proteinuria remission after initial therapy developed in 21 patients. Seven patients received renewed therapy, which resulted in proteinuria remission in all. IR and CR were associated with baseline PLA2Rab tertile. Five of 7 patients in need of additional therapy were identified at 4 weeks after start of therapy by PLA2Rab half-life (T_1/2) > 7 days. Serious adverse events occurred in 4 patients. Adverse events were mild; leukopenia was most frequent.</p><p><strong>Conclusion: </strong>Low-dose triple therapy induced a rapid IR and CR in most patients. Patients with insufficient clinical response were characterized by high baseline PLA2Rab levels and longer PLA2Rab T_1/2. Assessment of PLA2Rab levels within 2 to 4 weeks after start of therapy may enable to identify patients who need more intensive therapy.</p>","PeriodicalId":17761,"journal":{"name":"Kidney International Reports","volume":"9 12","pages":"3439-3445"},"PeriodicalIF":5.7,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11652067/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142854231","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multimodal Magnetic Resonance Imaging Assessments of Kidney Disease Severity in Autosomal Recessive Polycystic Kidney Disease.","authors":"Christina J MacAskill, Madison E Kretzler, Ashlee Parsons, Victoria Gange, Jenna Hach, Stephanie Larson, Yuran Zhu, Jacob Perino, Susan Farr, Michael Markley, Nicole Pritts, Mireia Perera-Gonzalez, Heather A Clark, Bernd Kuehn, Ke Cheng Liu, Xin Yu, Dan Ma, Yong Chen, Chris A Flask, Katherine M Dell","doi":"10.1016/j.ekir.2024.09.006","DOIUrl":"10.1016/j.ekir.2024.09.006","url":null,"abstract":"","PeriodicalId":17761,"journal":{"name":"Kidney International Reports","volume":"9 12","pages":"3592-3595"},"PeriodicalIF":5.7,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11652188/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142854475","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Steroid-Resistant Nephrotic Syndrome Is Associated With a Unique Genetic Profile in a Highly Admixed Pediatric Population.","authors":"Andreia Watanabe, Precil Diego Miranda de Menezes Neves, Kelly Nunes, Antonio Marcondes Lerario, Elieser Hitoshi Watanabe, Frederico Moraes Ferreira, Denise Maria Avancini Costa Malheiros, Amanda de Moraes Narcizo, Mara Sanches Guaragna, Stanley de Almeida Araujo, Thais Medeiros Cruz, Jussara Soares Fontes, Vera Maria Santoro Belangero, Maria Helena Vaisbich, Friedhelm Hildebrandt, Matthew Gordon Sampson, Luiz Fernando Onuchic","doi":"10.1016/j.ekir.2024.09.005","DOIUrl":"10.1016/j.ekir.2024.09.005","url":null,"abstract":"<p><strong>Introduction: </strong>The profile of genetic and nongenetic factors associated with progression to kidney failure (KF) in steroid-resistant nephrotic syndrome (SRNS) is largely unknown in admixed populations.</p><p><strong>Methods: </strong>A total of 101 pediatric patients with primary SRNS were genetically assessed targeting Mendelian causes and <i>APOL1</i> status with a 62-NS-gene panel or whole exome sequencing, as well as genetic ancestry. Variant pathogenicity was evaluated using the American College Medical of Genetics and Genomics (ACMG) criteria.</p><p><strong>Results: </strong>Focal segmental glomerulosclerosis (FSGS) was diagnosed in 54% of patients whereas familial disease was reported by 13%. The global genetic ancestry was 65% European, 22% African, 10.5% Native American, and 2% East-Asian, while 96% of cases presented with the first 3 components. <i>APOL1</i> high-risk genotypes were identified in 8% of families and causative Mendelian variants in 12%: <i>NPHS1</i> = 3, <i>NPHS2</i> = 3, <i>PLCE1</i> = 2, <i>WT1</i> = 2, <i>COQ2</i> = 1, and <i>CUBN</i> = 1. Two novel causative variants arose in the Native American background. The percentage of African genetic ancestry did not associate with the number of <i>APOL1</i> risk alleles. Forty-four percent of all patients progressed to KF. Mendelian forms and <i>APOL1</i> high-risk genotypes were associated with faster progression to KF. Cox regression analyses revealed that higher non-European genetic ancestry, self-declared non-White ethnicity, age of onset <1 year or ≥9 years, and non-minimal change disease (MCD) histology associated with higher risk of KF, independently of genetic findings.</p><p><strong>Conclusion: </strong>Mendelian variants and <i>APOL1</i> high-risk genotype compose a unique causative genetic profile associated with pediatric SRNS in this highly admixed population, accounting for approximately 20% of families. This ancestry pattern is consistent with the identification of <i>APOL1</i> high-risk genotypes in children with low proportion of African genetic ancestry. Self-declared ethnicity, age of manifestation and histology were independently associated with the risk of KF.</p>","PeriodicalId":17761,"journal":{"name":"Kidney International Reports","volume":"9 12","pages":"3501-3516"},"PeriodicalIF":5.7,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11652071/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142854543","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN.","authors":"Aude Servais, Miriam Zacchia, Laurène Dehoux, Rukshana Shroff, Anais Brassier, Roberta Taurisano, Stefan Kölker, Jun Oh, Gema Ariceta, Jelena Stojanovic, Friederike Hörster, Dello Strologo, Marco Spada, Manuel Schiff, Carlo Dionisi-Vici","doi":"10.1016/j.ekir.2024.09.002","DOIUrl":"10.1016/j.ekir.2024.09.002","url":null,"abstract":"<p><p>Methylmalonic acidemias (MMAs) are rare inherited metabolic diseases with multiorgan involvement. Chronic kidney disease (CKD) is a common complication, leading to kidney failure, dialysis, and kidney transplantation (KT). The objective of these guidelines was to develop clinical practice recommendations focusing on specific aspects of the kidney management of this disease. Development of these clinical practice recommendations is an initiative of the European Reference Network for Rare Kidney Diseases in collaboration with the European Reference Network for Hereditary Metabolic Disorders and included pediatric and adult nephrologists, metabolic specialists, as well as liver and kidney transplant specialists. CKD has become a significant clinical issue that requires specific follow-up in both pediatric and adult departments. Creatinine-based formulae significantly overestimate kidney function and the estimation of estimated glomerular filtration rate (eGFR) is more accurate using cystatin C. Besides usual kidney indications, acute dialysis may be required in emergency in case of acute metabolic decompensation to clear metabolic toxins. Long-term dialysis may be initiated for clearance of toxic metabolites. Long hours on hemodialysis (HD) and/or daily dialysis are required. The indications for transplantation in MMA are a high rate of metabolic decompensations, a high burden of disease and difficult metabolic control. Transplantation is also indicated in case of long-term complications. Combined liver-kidney transplantation (LKT) should be preferred in patients with MMA with CKD. Possible calcineurin inhibitors (CNIs) induced neurotoxicity was described in patients with MMA requiring immunosuppressive treatment monitoring and adaptation. Overall, 13 statements were produced to provide guidance on the management of CKD, dialysis, and transplantation in pediatric and adult patients with MMA.</p>","PeriodicalId":17761,"journal":{"name":"Kidney International Reports","volume":"9 12","pages":"3362-3374"},"PeriodicalIF":5.7,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11652068/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142854163","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}