Nephrology最新文献

{"title":"Biallelic Variant in the AGXT Gene in a Family Segregating Primary Hyperoxaluria; Accurate Genetic Diagnosis and Carrier Detection.","authors":"Jamil A Hashmi, Sibtan Afzal, Reham M Balahmar, Muhammad Latif, Sulman Basit","doi":"10.1111/nep.14423","DOIUrl":"https://doi.org/10.1111/nep.14423","url":null,"abstract":"<p><strong>Aim: </strong>Autosomal recessive primary hyperoxalurias (PH) are genetic disorders characterised by elevated oxalate production. Mutations in genes involved in glycoxylate metabolism are the underlying cause of PH. Type 1 PH (PH1) results in malfunctioning of alanine-glyoxylate aminotransferase enzymes of liver due to a change in the genetic sequence of alanine-glyoxylate aminotransferase (AGXT) gene. We encountered a large family segregating genetic disease of high oxalate kidney stones. A genetic analysis was carried out with the aim to identify underlying genetic defect.</p><p><strong>Methods: </strong>A large family with multiple affected individuals was recruited for this study. An extensive clinical evaluation, followed by genetic analysis, was carried out. Due to the heterogeneous nature of the disease, two members of the family having disease symptoms were subjected to whole exome sequencing (WES). Variants were annotated, filtered, and prioritised using various bioinformatic tools to detect disease associated genetic defects.</p><p><strong>Results: </strong>Unbiased and hypothesis-free WES data analysis was performed. Raw reads (fastq files) were mapped to the reference genome and duplicates were removed. Variants were annotated, filtered, and prioritised. A low-frequency missense variant (c. 1049G>A) in the AGXT gene was considered the candidate variant. This variant replaces the highly conserved glycine amino acid with aspartate (p.Gly350Asp). The variant is destabilising for protein-protein interaction based on predicted change in binding free energy (ΔΔG). All members having disease phenotype were found homozygous to the mutation. Both parents and unaffected individuals in a family are heterozygous for the variant.</p><p><strong>Conclusion: </strong>Identification of pathogenic variant in the AGXT gene, in this family, provides genotype-phenotype correlation and permits accurate clinical diagnosis as well as carrier detection. Moreover, this variant extends the AGXT mutation spectrum in a different population and highlights the clinical significance and diagnostic relevance of the variant.</p>","PeriodicalId":19264,"journal":{"name":"Nephrology","volume":"30 1","pages":"e14423"},"PeriodicalIF":2.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142922175","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lupus Nephritis and Chronic Kidney Disease: A Scoping Review.","authors":"Selene T Y Teoh, Desmond Y H Yap, Susan Yung, Tak Mao Chan","doi":"10.1111/nep.14427","DOIUrl":"10.1111/nep.14427","url":null,"abstract":"<p><p>Prevention of end-stage kidney disease (ESKD) is a major objective in the management of patients with lupus nephritis (LN). Chronic kidney disease (CKD) of variable severity is common in these patients, but recent literature has mostly focused on novel immunosuppressive treatments for acute LN, while the data on CKD is relatively limited. This scoping review aims to summarise available data on the prevalence and risk factors for CKD in patients with LN. PubMed and Web of Science databases were systematically searched on the 1st November 2024 for 'real world' SLE and LN cohorts with longitudinal follow-up which reported the outcome of CKD or CKD progression and its associated risk factors. Fifteen studies were included. The prevalence of CKD ranged from below 10% to almost 50% across diverse LN and SLE cohorts. Major risk factors for CKD or CKD progression included renal impairment at presentation, renal function at 1 year post-treatment, delayed diagnosis, established chronic pathological lesions on kidney biopsy, unsatisfactory treatment response, nephritic flares, hypertension, and persistent proteinuria during follow-up. Many of the identified risk factors are amenable to therapeutic intervention. CKD not only contributes to morbidity and mortality and inferior quality of life, but also influences the choice of therapy and optimal dosing of medications. Attention to immunomodulatory medications for disease control, and non-immune strategies for renoprotection and prevention of CKD complications, are both important in the management of patients with LN to reduce their life-time risk of ESKD.</p>","PeriodicalId":19264,"journal":{"name":"Nephrology","volume":"30 1","pages":"e14427"},"PeriodicalIF":2.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142951061","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Relationship between the rate of kidney function decline before peritoneal dialysis initiation and technique survival of peritoneal dialysis.","authors":"Shigeki Kojima, Shiho Murai, Kiyomitsu Nagayama, Yugo Shibagaki, Tsutomu Sakurada","doi":"10.1111/nep.14412","DOIUrl":"10.1111/nep.14412","url":null,"abstract":"","PeriodicalId":19264,"journal":{"name":"Nephrology","volume":" ","pages":"e14412"},"PeriodicalIF":2.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142624502","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Commentary on the 2021 update of the KDIGO clinical practice guideline for management of blood pressure in chronic kidney disease.","authors":"Emily J See, Vanessa Cullen","doi":"10.1111/nep.14414","DOIUrl":"10.1111/nep.14414","url":null,"abstract":"<p><p>The 2021 KDIGO clinical practice guideline for the management of blood pressure (BP) in chronic kidney disease (CKD) provided significant practice-changing recommendations for the care of both adult and paediatric CKD patients not receiving dialysis. The purpose of this review is to contextualise these recommendations and evaluate their applicability to the Australian and New Zealand context. Key updates presented in this guideline relate to measurement techniques, with a strong recommendation for standardised office BP measurement, as opposed to routine office BP measurement. Standardised measurement is more nuanced, compared to routine measurement, in terms of patient preparation, technique, timing, and duration of measurement, which may produce more accurate measurements but may require restructuring of clinical appointments and retraining of staff. The target systolic BP level for non-dialysis, non-transplant adult CKD patients suggested is <120 mmHg. The lifestyle and pharmacological interventions for lowering BP include regular exercise, a low-sodium diet, and renin-angiotensin-system (RAS) inhibitors in patients with comorbid diabetes or albuminuria. This commentary identifies several patient subgroups requiring further investigation and clinical guidance, including diabetic CKD, dialysis and transplant recipients with CKD, and paediatric CKD, and highlights the importance of further exploring the effect of SGLT2 inhibitors on high BP in CKD patients.</p>","PeriodicalId":19264,"journal":{"name":"Nephrology","volume":"30 1","pages":"e14414"},"PeriodicalIF":2.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142896482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pseudohaematuria Due to Mesalazine: A Case Report.","authors":"Mimi Truong, Lukas Kairaitis, Ronald L Castelino","doi":"10.1111/nep.14426","DOIUrl":"10.1111/nep.14426","url":null,"abstract":"<p><p>The symptom of macroscopic or 'visible' haematuria can cause significant patient distress, largely due to its' potential association with urinary tract malignancy, infection or glomerular disease. This lesson from practice describes the case of a 19-year-old female patient for whom the cause of red/brown urinary discolouration was found to relate to a reaction between renally excreted mesalazine and domestic bleach in the toilet bowel. Recognition of this phenomenon in patients taking mesalazine for inflammatory colitis is important to minimise patient distress and unnecessary investigation for a urinary tract cause.</p>","PeriodicalId":19264,"journal":{"name":"Nephrology","volume":"30 1","pages":"e14426"},"PeriodicalIF":2.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11752827/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142984234","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}

{"title":"Ultrastructural overlap between immunotactoid and cryoglobulin glomerulopathy: A case report.","authors":"Daniel Hirsch, Kirsten McIlroy, Roxana Tsui, Mrudula Krishnaswamy, Sarah Roxburgh","doi":"10.1111/nep.14413","DOIUrl":"10.1111/nep.14413","url":null,"abstract":"<p><p>Immunotactoid glomerulopathy (ITG), a condition characterised by highly organised microtubules on electron microscopy, and cryoglobulin glomerulopathy (CG) are rare forms of kidney injury that may be encountered in patients with cryoglobulinaemia. It has been proposed these two entities are part of the same disease process following observed clinical and histological similarities.</p>","PeriodicalId":19264,"journal":{"name":"Nephrology","volume":" ","pages":"e14413"},"PeriodicalIF":2.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142624506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Trends of bone mineral density and bone quality in a paediatric kidney transplant recipient: A case report.","authors":"Jun Aoyagi, Takahiro Kanai, Takane Ito, Takashi Saito, Hiroyuki Betsui, Masanori Kurosaki, Tomomi Maru, Marika Ono, Toshihiro Tajima","doi":"10.1111/nep.14382","DOIUrl":"10.1111/nep.14382","url":null,"abstract":"<p><p>Kidney transplant (KT) requires long-term glucocorticoid (GC) treatment against acute and/or chronic rejection. Glucocorticoid-induced osteoporosis (GIOP) is one of the major concerns in kidney transplant recipients (KTRs). Therefore, it is essential to accumulate GIOP data from paediatric KTRs to aid in their healthy growth. A serial observational study of bone strength was carried out in an 8-year-old girl with bilateral hypoplastic kidney who underwent ABO-compatible living-donor KT and GC treatment over 2 years. Bone strength was evaluated by bone mineral density (BMD) and serum bone turnover markers (BTMs), including serum alkaline phosphatase (S-ALP), serum tartrate-resistant acid phosphatase 5b (S-TRACP-5b), and serum undercarboxylated osteocalcin (S-ucOC). All the levels of BTMs and BMD from 1 M to 4 M remained lower than the levels at 0 months (0 M: baseline). After gradual reduction of GC dose (4 M-24 M), S-ALP levels increased from baseline and S-TRACP-5b levels remained lower than the baseline level, but BMD recovered to baseline and increased. The S-ucOC levels did not increase from baseline. The patient's height growth velocity SDS was +3.99 for 23 months, and no fracture occurred during this observation period. A consistent, predominantly formative state of bone, which maintained higher S-ALP levels and lower S-TRACP-5b levels compared to baseline, could contribute to increased BMD. In addition, no increase in S-ucOC levels from baseline could be associated with no deterioration of bone strength. This case suggests that measurement of BMD and, S-ALP, TRACP-5b and ucOC could be useful for evaluating the trend on bone strength in a paediatric KTR.</p>","PeriodicalId":19264,"journal":{"name":"Nephrology","volume":" ","pages":"955-959"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13547132/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142308230","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}

{"title":"Structures for quality assurance and measurements for kidney replacement therapies: A multinational study from the ISN-GKHA.","authors":"Udeme E Ekrikpo, Bianca Davidson, Viviane Calice-Silva, Sabine Karam, Mohamed A Osman, Silvia Arruebo, Fergus J Caskey, Sandrine Damster, Jo-Ann Donner, Vivekanand Jha, Adeera Levin, Masaomi Nangaku, Syed Saad, Marcello Tonelli, Feng Ye, Ikechi G Okpechi, Aminu K Bello, David W Johnson","doi":"10.1111/nep.14402","DOIUrl":"10.1111/nep.14402","url":null,"abstract":"<p><strong>Aim: </strong>Optimal care for patients with kidney failure reduces the risks of adverse health outcomes, including cardiovascular events and death. We evaluated data from the third iteration of the International Society of Nephrology Global Kidney Health Atlas (ISN-GKHA) to assess the capacity for quality service delivery for kidney failure care across countries and regions.</p><p><strong>Method: </strong>We explored the quality of kidney failure care delivery and the monitoring of quality indicators from data provided by an international survey of stakeholders from countries affiliated with the ISN from July to September 2022.</p><p><strong>Results: </strong>One hundred and sixty seven countries participated in the survey, representing about 97.4% of the world's population. In countries where haemodialysis (HD) was available, 81% (n = 134) provided standard HD sessions (three times weekly for 3-4 h per session) to patients. Among countries with peritoneal dialysis (PD) services, 61% (n = 101) were able to provide standard PD care (3-4 exchanges per day). In high-income countries, 98% (n = 62) reported that >75% of centers regularly monitored dialysis water quality for bacteria compared to 28% (n = 5) of low-income countries (LICs). Capacity to monitor the administration of immunosuppression drugs was generally available in 21% (n = 4) of LICs, compared to 90% (n = 57) of high-income countries. There was significant variability between and within regions and country income groups in reporting the quality of services utilized for kidney replacement therapies.</p><p><strong>Conclusion: </strong>Quality assurance standards on diagnostic and treatment tools were variable and particularly infrequent in LICs. Standardization of delivered care is essential for improving outcomes for people with kidney failure.</p>","PeriodicalId":19264,"journal":{"name":"Nephrology","volume":" ","pages":"873-883"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13546963/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142381336","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}

{"title":"An increasing trend of overweight and obesity in the Japanese incident end-stage kidney disease population.","authors":"Minako Wakasugi, Shin Goto","doi":"10.1111/nep.14410","DOIUrl":"10.1111/nep.14410","url":null,"abstract":"<p><strong>Aim: </strong>The global prevalence of overweight/obesity has been rising, and this trend is apparent in US and European incident end-stage kidney disease (ESKD) populations. We aimed to examine temporal trends in the prevalence of overweight/obesity and underweight among adult incident ESKD patients in Japan by year of dialysis initiation between 2006 and 2019 in comparison with those observed in the Japanese adult population during the same period.</p><p><strong>Methods: </strong>Using data from the Japanese Society of Dialysis Therapy Renal Data Registry and the National Health and Nutrition Survey, the sex-specific prevalence of overweight/obesity and that of underweight (BMI ≥ 25 kg/m² and <18.5 kg/m², respectively) were calculated, adjusted for age according to the 2019 Population Census via the direct method. Average annual percentage changes (AAPCs) and corresponding 95% confidence intervals (CIs) were calculated to examine trends.</p><p><strong>Results: </strong>From 2006 to 2019, the age-adjusted prevalence of overweight/obesity in the incident ESKD population increased for males (AAPC 3.36 [95% CI, 2.70 to 4.09]) and females (AAPC 2.86 [95% CI, 1.65 to 4.19]). The age-adjusted prevalence of overweight/obesity in the general population increased for males (AAPC 0.87 [95% CI, 0.26 to 1.42]) but not for females (AAPC 0.01 [95% CI, -0.55 to 0.57]). The age-adjusted prevalence of underweight in the incident ESKD population significantly decreased but was higher than that in the general population for both sexes.</p><p><strong>Conclusion: </strong>An increasing trend of overweight/obesity was observed in the incident ESKD population in Japan. There is a pressing need to address both underweight and overweight/obesity in the incident ESKD population.</p>","PeriodicalId":19264,"journal":{"name":"Nephrology","volume":" ","pages":"884-894"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11579560/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142504909","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}

{"title":"Identification of circulating microbial DNA and its association with kidney function in patients with diabetic kidney disease.","authors":"Hoang Thuy Linh, Megumi Oshima, Keisuke Sako, Masahiro Konishi, Daiki Hayashi, Hajime Sanada, Takahiro Yuasa, Akihiko Koshino, Keisuke Horikoshi, Taichiro Minami, Shunsuke Tsuge, Akira Tamai, Shiori Nakagawa, Ryo Nishioka, Takeshi Zoshima, Kiyoaki Ito, Ichiro Mizushima, Tadashi Toyama, Norihiko Sakai, Shinji Kitajima, Miho Shimizu, Takashi Wada, Yasunori Iwata","doi":"10.1111/nep.14408","DOIUrl":"10.1111/nep.14408","url":null,"abstract":"<p><strong>Aim: </strong>Recently, substantial studies have been accumulated to indicate the important role of gut microbiota in diabetic kidney disease (DKD). The abnormal change of bacterial-derived products could imply specific injuries or play beneficial or harmful roles in DKD progression. In this study, we examined the presence and contribution of the Klebsiella oxytoca gene in the circulation of patients with DKD.</p><p><strong>Method: </strong>We enrolled a total of 16 healthy participants, 17 patients with DKD, 5 patients with DKD requiring haemodialysis (HD), and 7 patients with CKD without diabetes. Bacterial-derived DNA (16S rDNA and a specific K. oxytoca gene) in the blood was detected using droplet digital PCR, then investigated the relationship with clinical characteristics.</p><p><strong>Results: </strong>We identified an increase in K. oxytoca genes in the blood of DKD patients. Interestingly, blood K. oxytoca copies and K. oxytoca/ 16S DNA ratio correlated with higher blood creatinine and BUN levels together with lower eGFR in DKD patients. K. oxytoca levels were also associated with higher neutrophil percentage, lower lymphocyte frequency, and increased neutrophil-to-lymphocyte ratio.</p><p><strong>Conclusion: </strong>Collectively, the presence of the K. oxytoca gene in the circulation could serve as a biomarker reflecting reduced renal function in DKD patients.</p>","PeriodicalId":19264,"journal":{"name":"Nephrology","volume":" ","pages":"909-916"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13546966/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142504910","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}